Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.237336129T>C | CA2663792153 | COL6A3 | c.1610+6A>G c.8347+6A>G (n.8347+6A>G) c.1092+6A>G n.1238A>G c.8965+6A>G (n.8965+6A>G) c.7141+6A>G (n.7141+6A>G) c.7144+6A>G (n.7144+6A>G) n.5407+6A>G c.8365+6A>G (n.8365+6A>G) c.7744+6A>G (n.7744+6A>G) c.8464+6A>G (n.8464+6A>G) c.8962+6A>G (n.8962+6A>G) c.6559+6A>G (n.6559+6A>G) | gnomAD v4 |
2 | g.237336133A>C | CA351190837 | COL6A3 | c.1610+2T>G c.8347+2T>G (n.8347+2T>G) c.1092+2T>G n.1234T>G c.8965+2T>G (n.8965+2T>G) c.7141+2T>G (n.7141+2T>G) c.7144+2T>G (n.7144+2T>G) n.5407+2T>G c.8365+2T>G (n.8365+2T>G) c.7744+2T>G (n.7744+2T>G) c.8464+2T>G (n.8464+2T>G) c.8962+2T>G (n.8962+2T>G) c.6559+2T>G (n.6559+2T>G) | |
2 | g.237336133A>G | CA351190839 | COL6A3 | c.1610+2T>C c.8347+2T>C (n.8347+2T>C) c.1092+2T>C n.1234T>C c.8965+2T>C (n.8965+2T>C) c.7141+2T>C (n.7141+2T>C) c.7144+2T>C (n.7144+2T>C) n.5407+2T>C c.8365+2T>C (n.8365+2T>C) c.7744+2T>C (n.7744+2T>C) c.8464+2T>C (n.8464+2T>C) c.8962+2T>C (n.8962+2T>C) c.6559+2T>C (n.6559+2T>C) | |
2 | g.237336133A>T | CA351190841 | COL6A3 | c.1610+2T>A c.8347+2T>A (n.8347+2T>A) c.1092+2T>A n.1234T>A c.8965+2T>A (n.8965+2T>A) c.7141+2T>A (n.7141+2T>A) c.7144+2T>A (n.7144+2T>A) n.5407+2T>A c.8365+2T>A (n.8365+2T>A) c.7744+2T>A (n.7744+2T>A) c.8464+2T>A (n.8464+2T>A) c.8962+2T>A (n.8962+2T>A) c.6559+2T>A (n.6559+2T>A) | |
2 | g.237336134C>A | CA67830298 | COL6A3 | c.1610+1G>T c.8347+1G>T (n.8347+1G>T) c.1092+1G>T n.1233G>T c.8965+1G>T (n.8965+1G>T) c.7141+1G>T (n.7141+1G>T) c.7144+1G>T (n.7144+1G>T) n.5407+1G>T c.8365+1G>T (n.8365+1G>T) c.7744+1G>T (n.7744+1G>T) c.8464+1G>T (n.8464+1G>T) c.8962+1G>T (n.8962+1G>T) c.6559+1G>T (n.6559+1G>T) | dbSNP |
2 | g.237336134C= | CA1337607045 | COL6A3 | c.1610+1G= c.8347+1G= (n.8347+1G=) c.1092+1G= n.1233G= c.8965+1G= (n.8965+1G=) c.7141+1G= (n.7141+1G=) c.7144+1G= (n.7144+1G=) n.5407+1G= c.8365+1G= (n.8365+1G=) c.7744+1G= (n.7744+1G=) c.8464+1G= (n.8464+1G=) c.8962+1G= (n.8962+1G=) c.6559+1G= (n.6559+1G=) | |
2 | g.237336134C>G | CA351190843 | COL6A3 | c.1610+1G>C c.8347+1G>C (n.8347+1G>C) c.1092+1G>C n.1233G>C c.8965+1G>C (n.8965+1G>C) c.7141+1G>C (n.7141+1G>C) c.7144+1G>C (n.7144+1G>C) n.5407+1G>C c.8365+1G>C (n.8365+1G>C) c.7744+1G>C (n.7744+1G>C) c.8464+1G>C (n.8464+1G>C) c.8962+1G>C (n.8962+1G>C) c.6559+1G>C (n.6559+1G>C) | |
2 | g.237336134C>T | CA16617499 | COL6A3 | c.1610+1G>A c.8347+1G>A (n.8347+1G>A) c.1092+1G>A n.1233G>A c.8965+1G>A (n.8965+1G>A) c.7141+1G>A (n.7141+1G>A) c.7144+1G>A (n.7144+1G>A) n.5407+1G>A c.8365+1G>A (n.8365+1G>A) c.7744+1G>A (n.7744+1G>A) c.8464+1G>A (n.8464+1G>A) c.8962+1G>A (n.8962+1G>A) c.6559+1G>A (n.6559+1G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.237336135C>A | CA351190846 | COL6A3 | c.1610G>T c.8347G>T (p.Val2783Phe) c.1092G>T n.1232G>T c.8965G>T (p.Val2989Phe) c.7141G>T (p.Val2381Phe) c.7144G>T (p.Val2382Phe) n.5407G>T c.8365G>T (p.Val2789Phe) c.7744G>T (p.Val2582Phe) c.8464G>T (p.Val2822Phe) c.8962G>T (p.Val2988Phe) c.6559G>T (p.Val2187Phe) | dbSNP |
2 | g.237336135C= | CA1337607046 | COL6A3 | c.1610G= c.8347G= (p.Val2783=) c.1092G= n.1232G= c.8965G= (p.Val2989=) c.7141G= (p.Val2381=) c.7144G= (p.Val2382=) n.5407G= c.8365G= (p.Val2789=) c.7744G= (p.Val2582=) c.8464G= (p.Val2822=) c.8962G= (p.Val2988=) c.6559G= (p.Val2187=) | |
2 | g.237336135C>G | CA351190847 | COL6A3 | c.1610G>C c.8347G>C (p.Val2783Leu) c.1092G>C n.1232G>C c.8965G>C (p.Val2989Leu) c.7141G>C (p.Val2381Leu) c.7144G>C (p.Val2382Leu) n.5407G>C c.8365G>C (p.Val2789Leu) c.7744G>C (p.Val2582Leu) c.8464G>C (p.Val2822Leu) c.8962G>C (p.Val2988Leu) c.6559G>C (p.Val2187Leu) | |
2 | g.237336135C>T | CA351190849 | COL6A3 | c.1610G>A c.8347G>A (p.Val2783Ile) c.1092G>A n.1232G>A c.8965G>A (p.Val2989Ile) c.7141G>A (p.Val2381Ile) c.7144G>A (p.Val2382Ile) n.5407G>A c.8365G>A (p.Val2789Ile) c.7744G>A (p.Val2582Ile) c.8464G>A (p.Val2822Ile) c.8962G>A (p.Val2988Ile) c.6559G>A (p.Val2187Ile) | COSMIC |
2 | g.237336136C>A | CA351190853 | COL6A3 | c.1609G>T c.8346G>T (p.Met2782Ile) c.1091G>T n.1231G>T c.8964G>T (p.Met2988Ile) c.7140G>T (p.Met2380Ile) c.7143G>T (p.Met2381Ile) n.5406G>T c.8364G>T (p.Met2788Ile) c.7743G>T (p.Met2581Ile) c.8463G>T (p.Met2821Ile) c.8961G>T (p.Met2987Ile) c.6558G>T (p.Met2186Ile) | |
2 | g.237336136C>G | CA351190854 | COL6A3 | c.1609G>C c.8346G>C (p.Met2782Ile) c.1091G>C n.1231G>C c.8964G>C (p.Met2988Ile) c.7140G>C (p.Met2380Ile) c.7143G>C (p.Met2381Ile) n.5406G>C c.8364G>C (p.Met2788Ile) c.7743G>C (p.Met2581Ile) c.8463G>C (p.Met2821Ile) c.8961G>C (p.Met2987Ile) c.6558G>C (p.Met2186Ile) | |
2 | g.237336136C>T | CA351190851 | COL6A3 | c.1609G>A c.8346G>A (p.Met2782Ile) c.1091G>A n.1231G>A c.8964G>A (p.Met2988Ile) c.7140G>A (p.Met2380Ile) c.7143G>A (p.Met2381Ile) n.5406G>A c.8364G>A (p.Met2788Ile) c.7743G>A (p.Met2581Ile) c.8463G>A (p.Met2821Ile) c.8961G>A (p.Met2987Ile) c.6558G>A (p.Met2186Ile) | |
2 | g.237336137A>C | CA351190861 | COL6A3 | c.1608T>G c.8345T>G (p.Met2782Arg) c.1090T>G n.1230T>G c.8963T>G (p.Met2988Arg) c.7139T>G (p.Met2380Arg) c.7142T>G (p.Met2381Arg) n.5405T>G c.8363T>G (p.Met2788Arg) c.7742T>G (p.Met2581Arg) c.8462T>G (p.Met2821Arg) c.8960T>G (p.Met2987Arg) c.6557T>G (p.Met2186Arg) | |
2 | g.237336137A>G | CA351190857 | COL6A3 | c.1608T>C c.8345T>C (p.Met2782Thr) c.1090T>C n.1230T>C c.8963T>C (p.Met2988Thr) c.7139T>C (p.Met2380Thr) c.7142T>C (p.Met2381Thr) n.5405T>C c.8363T>C (p.Met2788Thr) c.7742T>C (p.Met2581Thr) c.8462T>C (p.Met2821Thr) c.8960T>C (p.Met2987Thr) c.6557T>C (p.Met2186Thr) | |
2 | g.237336137A>T | CA351190859 | COL6A3 | c.1608T>A c.8345T>A (p.Met2782Lys) c.1090T>A n.1230T>A c.8963T>A (p.Met2988Lys) c.7139T>A (p.Met2380Lys) c.7142T>A (p.Met2381Lys) n.5405T>A c.8363T>A (p.Met2788Lys) c.7742T>A (p.Met2581Lys) c.8462T>A (p.Met2821Lys) c.8960T>A (p.Met2987Lys) c.6557T>A (p.Met2186Lys) | gnomAD v4 |
2 | g.237336138T>A | CA351190863 | COL6A3 | c.1607A>T c.8344A>T (p.Met2782Leu) c.1089A>T n.1229A>T c.8962A>T (p.Met2988Leu) c.7138A>T (p.Met2380Leu) c.7141A>T (p.Met2381Leu) n.5404A>T c.8362A>T (p.Met2788Leu) c.7741A>T (p.Met2581Leu) c.8461A>T (p.Met2821Leu) c.8959A>T (p.Met2987Leu) c.6556A>T (p.Met2186Leu) | |
2 | g.237336138T>C | CA148083 | COL6A3 | c.1607A>G c.8344A>G (p.Met2782Val) c.1089A>G n.1229A>G c.8962A>G (p.Met2988Val) c.7138A>G (p.Met2380Val) c.7141A>G (p.Met2381Val) n.5404A>G c.8362A>G (p.Met2788Val) c.7741A>G (p.Met2581Val) c.8461A>G (p.Met2821Val) c.8959A>G (p.Met2987Val) c.6556A>G (p.Met2186Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336138T>G | CA351190865 | COL6A3 | c.1607A>C c.8344A>C (p.Met2782Leu) c.1089A>C n.1229A>C c.8962A>C (p.Met2988Leu) c.7138A>C (p.Met2380Leu) c.7141A>C (p.Met2381Leu) n.5404A>C c.8362A>C (p.Met2788Leu) c.7741A>C (p.Met2581Leu) c.8461A>C (p.Met2821Leu) c.8959A>C (p.Met2987Leu) c.6556A>C (p.Met2186Leu) | |
2 | g.237336138T= | CA1337607047 | COL6A3 | c.1607A= c.8344A= (p.Met2782=) c.1089A= n.1229A= c.8962A= (p.Met2988=) c.7138A= (p.Met2380=) c.7141A= (p.Met2381=) n.5404A= c.8362A= (p.Met2788=) c.7741A= (p.Met2581=) c.8461A= (p.Met2821=) c.8959A= (p.Met2987=) c.6556A= (p.Met2186=) | |
2 | g.237336139G>A | CA431698287 | COL6A3 | c.1606C>T c.8343C>T (p.Pro2781=) c.1088C>T n.1228C>T c.8961C>T (p.Pro2987=) c.7137C>T (p.Pro2379=) c.7140C>T (p.Pro2380=) n.5403C>T c.8361C>T (p.Pro2787=) c.7740C>T (p.Pro2580=) c.8460C>T (p.Pro2820=) c.8958C>T (p.Pro2986=) c.6555C>T (p.Pro2185=) | gnomAD v4 |
2 | g.237336139G>C | CA431698289 | COL6A3 | c.1606C>G c.8343C>G (p.Pro2781=) c.1088C>G n.1228C>G c.8961C>G (p.Pro2987=) c.7137C>G (p.Pro2379=) c.7140C>G (p.Pro2380=) n.5403C>G c.8361C>G (p.Pro2787=) c.7740C>G (p.Pro2580=) c.8460C>G (p.Pro2820=) c.8958C>G (p.Pro2986=) c.6555C>G (p.Pro2185=) | |
2 | g.237336139G>T | CA431698291 | COL6A3 | c.1606C>A c.8343C>A (p.Pro2781=) c.1088C>A n.1228C>A c.8961C>A (p.Pro2987=) c.7137C>A (p.Pro2379=) c.7140C>A (p.Pro2380=) n.5403C>A c.8361C>A (p.Pro2787=) c.7740C>A (p.Pro2580=) c.8460C>A (p.Pro2820=) c.8958C>A (p.Pro2986=) c.6555C>A (p.Pro2185=) | |
2 | g.237336140G>A | CA351190866 | COL6A3 | c.1605C>T c.8342C>T (p.Pro2781Leu) c.1087C>T n.1227C>T c.8960C>T (p.Pro2987Leu) c.7136C>T (p.Pro2379Leu) c.7139C>T (p.Pro2380Leu) n.5402C>T c.8360C>T (p.Pro2787Leu) c.7739C>T (p.Pro2580Leu) c.8459C>T (p.Pro2820Leu) c.8957C>T (p.Pro2986Leu) c.6554C>T (p.Pro2185Leu) | dbSNP |
2 | g.237336140G>C | CA351190868 | COL6A3 | c.1605C>G c.8342C>G (p.Pro2781Arg) c.1087C>G n.1227C>G c.8960C>G (p.Pro2987Arg) c.7136C>G (p.Pro2379Arg) c.7139C>G (p.Pro2380Arg) n.5402C>G c.8360C>G (p.Pro2787Arg) c.7739C>G (p.Pro2580Arg) c.8459C>G (p.Pro2820Arg) c.8957C>G (p.Pro2986Arg) c.6554C>G (p.Pro2185Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336140G= | CA1337607048 | COL6A3 | c.1605C= c.8342C= (p.Pro2781=) c.1087C= n.1227C= c.8960C= (p.Pro2987=) c.7136C= (p.Pro2379=) c.7139C= (p.Pro2380=) n.5402C= c.8360C= (p.Pro2787=) c.7739C= (p.Pro2580=) c.8459C= (p.Pro2820=) c.8957C= (p.Pro2986=) c.6554C= (p.Pro2185=) | |
2 | g.237336140G>T | CA351190869 | COL6A3 | c.1605C>A c.8342C>A (p.Pro2781His) c.1087C>A n.1227C>A c.8960C>A (p.Pro2987His) c.7136C>A (p.Pro2379His) c.7139C>A (p.Pro2380His) n.5402C>A c.8360C>A (p.Pro2787His) c.7739C>A (p.Pro2580His) c.8459C>A (p.Pro2820His) c.8957C>A (p.Pro2986His) c.6554C>A (p.Pro2185His) | gnomAD v4 |
2 | g.237336141G>A | CA351190871 | COL6A3 | c.1604C>T c.8341C>T (p.Pro2781Ser) c.1086C>T n.1226C>T c.8959C>T (p.Pro2987Ser) c.7135C>T (p.Pro2379Ser) c.7138C>T (p.Pro2380Ser) n.5401C>T c.8359C>T (p.Pro2787Ser) c.7738C>T (p.Pro2580Ser) c.8458C>T (p.Pro2820Ser) c.8956C>T (p.Pro2986Ser) c.6553C>T (p.Pro2185Ser) | |
2 | g.237336141G>C | CA351190873 | COL6A3 | c.1604C>G c.8341C>G (p.Pro2781Ala) c.1086C>G n.1226C>G c.8959C>G (p.Pro2987Ala) c.7135C>G (p.Pro2379Ala) c.7138C>G (p.Pro2380Ala) n.5401C>G c.8359C>G (p.Pro2787Ala) c.7738C>G (p.Pro2580Ala) c.8458C>G (p.Pro2820Ala) c.8956C>G (p.Pro2986Ala) c.6553C>G (p.Pro2185Ala) | |
2 | g.237336141G>T | CA351190876 | COL6A3 | c.1604C>A c.8341C>A (p.Pro2781Thr) c.1086C>A n.1226C>A c.8959C>A (p.Pro2987Thr) c.7135C>A (p.Pro2379Thr) c.7138C>A (p.Pro2380Thr) n.5401C>A c.8359C>A (p.Pro2787Thr) c.7738C>A (p.Pro2580Thr) c.8458C>A (p.Pro2820Thr) c.8956C>A (p.Pro2986Thr) c.6553C>A (p.Pro2185Thr) | |
2 | g.237336142C>A | CA351190878 | COL6A3 | c.1603G>T c.8340G>T (p.Lys2780Asn) c.1085G>T n.1225G>T c.8958G>T (p.Lys2986Asn) c.7134G>T (p.Lys2378Asn) c.7137G>T (p.Lys2379Asn) n.5400G>T c.8358G>T (p.Lys2786Asn) c.7737G>T (p.Lys2579Asn) c.8457G>T (p.Lys2819Asn) c.8955G>T (p.Lys2985Asn) c.6552G>T (p.Lys2184Asn) | |
2 | g.237336142C>G | CA351190879 | COL6A3 | c.1603G>C c.8340G>C (p.Lys2780Asn) c.1085G>C n.1225G>C c.8958G>C (p.Lys2986Asn) c.7134G>C (p.Lys2378Asn) c.7137G>C (p.Lys2379Asn) n.5400G>C c.8358G>C (p.Lys2786Asn) c.7737G>C (p.Lys2579Asn) c.8457G>C (p.Lys2819Asn) c.8955G>C (p.Lys2985Asn) c.6552G>C (p.Lys2184Asn) | |
2 | g.237336142C>T | CA431698301 | COL6A3 | c.1603G>A c.8340G>A (p.Lys2780=) c.1085G>A n.1225G>A c.8958G>A (p.Lys2986=) c.7134G>A (p.Lys2378=) c.7137G>A (p.Lys2379=) n.5400G>A c.8358G>A (p.Lys2786=) c.7737G>A (p.Lys2579=) c.8457G>A (p.Lys2819=) c.8955G>A (p.Lys2985=) c.6552G>A (p.Lys2184=) | |
2 | g.237336143T>A | CA351190881 | COL6A3 | c.1602A>T c.8339A>T (p.Lys2780Met) c.1084A>T n.1224A>T c.8957A>T (p.Lys2986Met) c.7133A>T (p.Lys2378Met) c.7136A>T (p.Lys2379Met) n.5399A>T c.8357A>T (p.Lys2786Met) c.7736A>T (p.Lys2579Met) c.8456A>T (p.Lys2819Met) c.8954A>T (p.Lys2985Met) c.6551A>T (p.Lys2184Met) | |
2 | g.237336143T>C | CA351190885 | COL6A3 | c.1602A>G c.8339A>G (p.Lys2780Arg) c.1084A>G n.1224A>G c.8957A>G (p.Lys2986Arg) c.7133A>G (p.Lys2378Arg) c.7136A>G (p.Lys2379Arg) n.5399A>G c.8357A>G (p.Lys2786Arg) c.7736A>G (p.Lys2579Arg) c.8456A>G (p.Lys2819Arg) c.8954A>G (p.Lys2985Arg) c.6551A>G (p.Lys2184Arg) | |
2 | g.237336143T>G | CA351190884 | COL6A3 | c.1602A>C c.8339A>C (p.Lys2780Thr) c.1084A>C n.1224A>C c.8957A>C (p.Lys2986Thr) c.7133A>C (p.Lys2378Thr) c.7136A>C (p.Lys2379Thr) n.5399A>C c.8357A>C (p.Lys2786Thr) c.7736A>C (p.Lys2579Thr) c.8456A>C (p.Lys2819Thr) c.8954A>C (p.Lys2985Thr) c.6551A>C (p.Lys2184Thr) | |
2 | g.237336144T>A | CA351190887 | COL6A3 | c.1601A>T c.8338A>T (p.Lys2780Ter) c.1083A>T n.1223A>T c.8956A>T (p.Lys2986Ter) c.7132A>T (p.Lys2378Ter) c.7135A>T (p.Lys2379Ter) n.5398A>T c.8356A>T (p.Lys2786Ter) c.7735A>T (p.Lys2579Ter) c.8455A>T (p.Lys2819Ter) c.8953A>T (p.Lys2985Ter) c.6550A>T (p.Lys2184Ter) | |
2 | g.237336144T>C | CA351190889 | COL6A3 | c.1601A>G c.8338A>G (p.Lys2780Glu) c.1083A>G n.1223A>G c.8956A>G (p.Lys2986Glu) c.7132A>G (p.Lys2378Glu) c.7135A>G (p.Lys2379Glu) n.5398A>G c.8356A>G (p.Lys2786Glu) c.7735A>G (p.Lys2579Glu) c.8455A>G (p.Lys2819Glu) c.8953A>G (p.Lys2985Glu) c.6550A>G (p.Lys2184Glu) | |
2 | g.237336144T>G | CA351190891 | COL6A3 | c.1601A>C c.8338A>C (p.Lys2780Gln) c.1083A>C n.1223A>C c.8956A>C (p.Lys2986Gln) c.7132A>C (p.Lys2378Gln) c.7135A>C (p.Lys2379Gln) n.5398A>C c.8356A>C (p.Lys2786Gln) c.7735A>C (p.Lys2579Gln) c.8455A>C (p.Lys2819Gln) c.8953A>C (p.Lys2985Gln) c.6550A>C (p.Lys2184Gln) | |
2 | g.237336145A= | CA1337607049 | COL6A3 | c.1600T= c.8337T= (p.Thr2779=) c.1082T= n.1222T= c.8955T= (p.Thr2985=) c.7131T= (p.Thr2377=) c.7134T= (p.Thr2378=) n.5397T= c.8355T= (p.Thr2785=) c.7734T= (p.Thr2578=) c.8454T= (p.Thr2818=) c.8952T= (p.Thr2984=) c.6549T= (p.Thr2183=) | |
2 | g.237336145A>C | CA431698315 | COL6A3 | c.1600T>G c.8337T>G (p.Thr2779=) c.1082T>G n.1222T>G c.8955T>G (p.Thr2985=) c.7131T>G (p.Thr2377=) c.7134T>G (p.Thr2378=) n.5397T>G c.8355T>G (p.Thr2785=) c.7734T>G (p.Thr2578=) c.8454T>G (p.Thr2818=) c.8952T>G (p.Thr2984=) c.6549T>G (p.Thr2183=) | |
2 | g.237336145A>G | CA2187407 | COL6A3 | c.1600T>C c.8337T>C (p.Thr2779=) c.1082T>C n.1222T>C c.8955T>C (p.Thr2985=) c.7131T>C (p.Thr2377=) c.7134T>C (p.Thr2378=) n.5397T>C c.8355T>C (p.Thr2785=) c.7734T>C (p.Thr2578=) c.8454T>C (p.Thr2818=) c.8952T>C (p.Thr2984=) c.6549T>C (p.Thr2183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336145A>T | CA431698314 | COL6A3 | c.1600T>A c.8337T>A (p.Thr2779=) c.1082T>A n.1222T>A c.8955T>A (p.Thr2985=) c.7131T>A (p.Thr2377=) c.7134T>A (p.Thr2378=) n.5397T>A c.8355T>A (p.Thr2785=) c.7734T>A (p.Thr2578=) c.8454T>A (p.Thr2818=) c.8952T>A (p.Thr2984=) c.6549T>A (p.Thr2183=) | |
2 | g.237336146G>A | CA351190894 | COL6A3 | c.1599C>T c.8336C>T (p.Thr2779Ile) c.1081C>T n.1221C>T c.8954C>T (p.Thr2985Ile) c.7130C>T (p.Thr2377Ile) c.7133C>T (p.Thr2378Ile) n.5396C>T c.8354C>T (p.Thr2785Ile) c.7733C>T (p.Thr2578Ile) c.8453C>T (p.Thr2818Ile) c.8951C>T (p.Thr2984Ile) c.6548C>T (p.Thr2183Ile) | |
2 | g.237336146G>C | CA351190895 | COL6A3 | c.1599C>G c.8336C>G (p.Thr2779Ser) c.1081C>G n.1221C>G c.8954C>G (p.Thr2985Ser) c.7130C>G (p.Thr2377Ser) c.7133C>G (p.Thr2378Ser) n.5396C>G c.8354C>G (p.Thr2785Ser) c.7733C>G (p.Thr2578Ser) c.8453C>G (p.Thr2818Ser) c.8951C>G (p.Thr2984Ser) c.6548C>G (p.Thr2183Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.237336146G= | CA1337607050 | COL6A3 | c.1599C= c.8336C= (p.Thr2779=) c.1081C= n.1221C= c.8954C= (p.Thr2985=) c.7130C= (p.Thr2377=) c.7133C= (p.Thr2378=) n.5396C= c.8354C= (p.Thr2785=) c.7733C= (p.Thr2578=) c.8453C= (p.Thr2818=) c.8951C= (p.Thr2984=) c.6548C= (p.Thr2183=) | |
2 | g.237336146G>T | CA351190897 | COL6A3 | c.1599C>A c.8336C>A (p.Thr2779Asn) c.1081C>A n.1221C>A c.8954C>A (p.Thr2985Asn) c.7130C>A (p.Thr2377Asn) c.7133C>A (p.Thr2378Asn) n.5396C>A c.8354C>A (p.Thr2785Asn) c.7733C>A (p.Thr2578Asn) c.8453C>A (p.Thr2818Asn) c.8951C>A (p.Thr2984Asn) c.6548C>A (p.Thr2183Asn) | |
2 | g.237336147T>A | CA351190900 | COL6A3 | c.1598A>T c.8335A>T (p.Thr2779Ser) c.1080A>T n.1220A>T c.8953A>T (p.Thr2985Ser) c.7129A>T (p.Thr2377Ser) c.7132A>T (p.Thr2378Ser) n.5395A>T c.8353A>T (p.Thr2785Ser) c.7732A>T (p.Thr2578Ser) c.8452A>T (p.Thr2818Ser) c.8950A>T (p.Thr2984Ser) c.6547A>T (p.Thr2183Ser) | |
2 | g.237336147T>C | CA351190901 | COL6A3 | c.1598A>G c.8335A>G (p.Thr2779Ala) c.1080A>G n.1220A>G c.8953A>G (p.Thr2985Ala) c.7129A>G (p.Thr2377Ala) c.7132A>G (p.Thr2378Ala) n.5395A>G c.8353A>G (p.Thr2785Ala) c.7732A>G (p.Thr2578Ala) c.8452A>G (p.Thr2818Ala) c.8950A>G (p.Thr2984Ala) c.6547A>G (p.Thr2183Ala) | |
2 | g.237336147T>G | CA351190903 | COL6A3 | c.1598A>C c.8335A>C (p.Thr2779Pro) c.1080A>C n.1220A>C c.8953A>C (p.Thr2985Pro) c.7129A>C (p.Thr2377Pro) c.7132A>C (p.Thr2378Pro) n.5395A>C c.8353A>C (p.Thr2785Pro) c.7732A>C (p.Thr2578Pro) c.8452A>C (p.Thr2818Pro) c.8950A>C (p.Thr2984Pro) c.6547A>C (p.Thr2183Pro) | |
2 | g.237336148G>A | CA431698332 | COL6A3 | c.1597C>T c.8334C>T (p.Thr2778=) c.1079C>T n.1219C>T c.8952C>T (p.Thr2984=) c.7128C>T (p.Thr2376=) c.7131C>T (p.Thr2377=) n.5394C>T c.8352C>T (p.Thr2784=) c.7731C>T (p.Thr2577=) c.8451C>T (p.Thr2817=) c.8949C>T (p.Thr2983=) c.6546C>T (p.Thr2182=) | |
2 | g.237336148G>C | CA431698334 | COL6A3 | c.1597C>G c.8334C>G (p.Thr2778=) c.1079C>G n.1219C>G c.8952C>G (p.Thr2984=) c.7128C>G (p.Thr2376=) c.7131C>G (p.Thr2377=) n.5394C>G c.8352C>G (p.Thr2784=) c.7731C>G (p.Thr2577=) c.8451C>G (p.Thr2817=) c.8949C>G (p.Thr2983=) c.6546C>G (p.Thr2182=) | |
2 | g.237336148G= | CA1337607051 | COL6A3 | c.1597C= c.8334C= (p.Thr2778=) c.1079C= n.1219C= c.8952C= (p.Thr2984=) c.7128C= (p.Thr2376=) c.7131C= (p.Thr2377=) n.5394C= c.8352C= (p.Thr2784=) c.7731C= (p.Thr2577=) c.8451C= (p.Thr2817=) c.8949C= (p.Thr2983=) c.6546C= (p.Thr2182=) | |
2 | g.237336148G>T | CA431698335 | COL6A3 | c.1597C>A c.8334C>A (p.Thr2778=) c.1079C>A n.1219C>A c.8952C>A (p.Thr2984=) c.7128C>A (p.Thr2376=) c.7131C>A (p.Thr2377=) n.5394C>A c.8352C>A (p.Thr2784=) c.7731C>A (p.Thr2577=) c.8451C>A (p.Thr2817=) c.8949C>A (p.Thr2983=) c.6546C>A (p.Thr2182=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336149G>A | CA351190907 | COL6A3 | c.1596C>T c.8333C>T (p.Thr2778Ile) c.1078C>T n.1218C>T c.8951C>T (p.Thr2984Ile) c.7127C>T (p.Thr2376Ile) c.7130C>T (p.Thr2377Ile) n.5393C>T c.8351C>T (p.Thr2784Ile) c.7730C>T (p.Thr2577Ile) c.8450C>T (p.Thr2817Ile) c.8948C>T (p.Thr2983Ile) c.6545C>T (p.Thr2182Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336149G>C | CA351190909 | COL6A3 | c.1596C>G c.8333C>G (p.Thr2778Ser) c.1078C>G n.1218C>G c.8951C>G (p.Thr2984Ser) c.7127C>G (p.Thr2376Ser) c.7130C>G (p.Thr2377Ser) n.5393C>G c.8351C>G (p.Thr2784Ser) c.7730C>G (p.Thr2577Ser) c.8450C>G (p.Thr2817Ser) c.8948C>G (p.Thr2983Ser) c.6545C>G (p.Thr2182Ser) | |
2 | g.237336149G= | CA1337607052 | COL6A3 | c.1596C= c.8333C= (p.Thr2778=) c.1078C= n.1218C= c.8951C= (p.Thr2984=) c.7127C= (p.Thr2376=) c.7130C= (p.Thr2377=) n.5393C= c.8351C= (p.Thr2784=) c.7730C= (p.Thr2577=) c.8450C= (p.Thr2817=) c.8948C= (p.Thr2983=) c.6545C= (p.Thr2182=) | |
2 | g.237336149G>T | CA351190905 | COL6A3 | c.1596C>A c.8333C>A (p.Thr2778Asn) c.1078C>A n.1218C>A c.8951C>A (p.Thr2984Asn) c.7127C>A (p.Thr2376Asn) c.7130C>A (p.Thr2377Asn) n.5393C>A c.8351C>A (p.Thr2784Asn) c.7730C>A (p.Thr2577Asn) c.8450C>A (p.Thr2817Asn) c.8948C>A (p.Thr2983Asn) c.6545C>A (p.Thr2182Asn) | |
2 | g.237336150T>A | CA351190911 | COL6A3 | c.1595A>T c.8332A>T (p.Thr2778Ser) c.1077A>T n.1217A>T c.8950A>T (p.Thr2984Ser) c.7126A>T (p.Thr2376Ser) c.7129A>T (p.Thr2377Ser) n.5392A>T c.8350A>T (p.Thr2784Ser) c.7729A>T (p.Thr2577Ser) c.8449A>T (p.Thr2817Ser) c.8947A>T (p.Thr2983Ser) c.6544A>T (p.Thr2182Ser) | |
2 | g.237336150T>C | CA351190914 | COL6A3 | c.1595A>G c.8332A>G (p.Thr2778Ala) c.1077A>G n.1217A>G c.8950A>G (p.Thr2984Ala) c.7126A>G (p.Thr2376Ala) c.7129A>G (p.Thr2377Ala) n.5392A>G c.8350A>G (p.Thr2784Ala) c.7729A>G (p.Thr2577Ala) c.8449A>G (p.Thr2817Ala) c.8947A>G (p.Thr2983Ala) c.6544A>G (p.Thr2182Ala) | gnomAD v4 |
2 | g.237336150T>G | CA351190915 | COL6A3 | c.1595A>C c.8332A>C (p.Thr2778Pro) c.1077A>C n.1217A>C c.8950A>C (p.Thr2984Pro) c.7126A>C (p.Thr2376Pro) c.7129A>C (p.Thr2377Pro) n.5392A>C c.8350A>C (p.Thr2784Pro) c.7729A>C (p.Thr2577Pro) c.8449A>C (p.Thr2817Pro) c.8947A>C (p.Thr2983Pro) c.6544A>C (p.Thr2182Pro) | |
2 | g.237336151G>A | CA431698349 | COL6A3 | c.1594C>T c.8331C>T (p.Ala2777=) c.1076C>T n.1216C>T c.8949C>T (p.Ala2983=) c.7125C>T (p.Ala2375=) c.7128C>T (p.Ala2376=) n.5391C>T c.8349C>T (p.Ala2783=) c.7728C>T (p.Ala2576=) c.8448C>T (p.Ala2816=) c.8946C>T (p.Ala2982=) c.6543C>T (p.Ala2181=) | gnomAD v4 |
2 | g.237336151G>C | CA431698350 | COL6A3 | c.1594C>G c.8331C>G (p.Ala2777=) c.1076C>G n.1216C>G c.8949C>G (p.Ala2983=) c.7125C>G (p.Ala2375=) c.7128C>G (p.Ala2376=) n.5391C>G c.8349C>G (p.Ala2783=) c.7728C>G (p.Ala2576=) c.8448C>G (p.Ala2816=) c.8946C>G (p.Ala2982=) c.6543C>G (p.Ala2181=) | |
2 | g.237336151G>T | CA431698352 | COL6A3 | c.1594C>A c.8331C>A (p.Ala2777=) c.1076C>A n.1216C>A c.8949C>A (p.Ala2983=) c.7125C>A (p.Ala2375=) c.7128C>A (p.Ala2376=) n.5391C>A c.8349C>A (p.Ala2783=) c.7728C>A (p.Ala2576=) c.8448C>A (p.Ala2816=) c.8946C>A (p.Ala2982=) c.6543C>A (p.Ala2181=) | |
2 | g.237336152G>A | CA2187408 | COL6A3 | c.1593C>T c.8330C>T (p.Ala2777Val) c.1075C>T n.1215C>T c.8948C>T (p.Ala2983Val) c.7124C>T (p.Ala2375Val) c.7127C>T (p.Ala2376Val) n.5390C>T c.8348C>T (p.Ala2783Val) c.7727C>T (p.Ala2576Val) c.8447C>T (p.Ala2816Val) c.8945C>T (p.Ala2982Val) c.6542C>T (p.Ala2181Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237336152G>C | CA351190918 | COL6A3 | c.1593C>G c.8330C>G (p.Ala2777Gly) c.1075C>G n.1215C>G c.8948C>G (p.Ala2983Gly) c.7124C>G (p.Ala2375Gly) c.7127C>G (p.Ala2376Gly) n.5390C>G c.8348C>G (p.Ala2783Gly) c.7727C>G (p.Ala2576Gly) c.8447C>G (p.Ala2816Gly) c.8945C>G (p.Ala2982Gly) c.6542C>G (p.Ala2181Gly) | |
2 | g.237336152G= | CA1337607053 | COL6A3 | c.1593C= c.8330C= (p.Ala2777=) c.1075C= n.1215C= c.8948C= (p.Ala2983=) c.7124C= (p.Ala2375=) c.7127C= (p.Ala2376=) n.5390C= c.8348C= (p.Ala2783=) c.7727C= (p.Ala2576=) c.8447C= (p.Ala2816=) c.8945C= (p.Ala2982=) c.6542C= (p.Ala2181=) | |
2 | g.237336152G>T | CA351190919 | COL6A3 | c.1593C>A c.8330C>A (p.Ala2777Asp) c.1075C>A n.1215C>A c.8948C>A (p.Ala2983Asp) c.7124C>A (p.Ala2375Asp) c.7127C>A (p.Ala2376Asp) n.5390C>A c.8348C>A (p.Ala2783Asp) c.7727C>A (p.Ala2576Asp) c.8447C>A (p.Ala2816Asp) c.8945C>A (p.Ala2982Asp) c.6542C>A (p.Ala2181Asp) | |
2 | g.237336153C>A | CA351190921 | COL6A3 | c.1592G>T c.8329G>T (p.Ala2777Ser) c.1074G>T n.1214G>T c.8947G>T (p.Ala2983Ser) c.7123G>T (p.Ala2375Ser) c.7126G>T (p.Ala2376Ser) n.5389G>T c.8347G>T (p.Ala2783Ser) c.7726G>T (p.Ala2576Ser) c.8446G>T (p.Ala2816Ser) c.8944G>T (p.Ala2982Ser) c.6541G>T (p.Ala2181Ser) | |
2 | g.237336153C>G | CA351190923 | COL6A3 | c.1592G>C c.8329G>C (p.Ala2777Pro) c.1074G>C n.1214G>C c.8947G>C (p.Ala2983Pro) c.7123G>C (p.Ala2375Pro) c.7126G>C (p.Ala2376Pro) n.5389G>C c.8347G>C (p.Ala2783Pro) c.7726G>C (p.Ala2576Pro) c.8446G>C (p.Ala2816Pro) c.8944G>C (p.Ala2982Pro) c.6541G>C (p.Ala2181Pro) | |
2 | g.237336153C>T | CA351190925 | COL6A3 | c.1592G>A c.8329G>A (p.Ala2777Thr) c.1074G>A n.1214G>A c.8947G>A (p.Ala2983Thr) c.7123G>A (p.Ala2375Thr) c.7126G>A (p.Ala2376Thr) n.5389G>A c.8347G>A (p.Ala2783Thr) c.7726G>A (p.Ala2576Thr) c.8446G>A (p.Ala2816Thr) c.8944G>A (p.Ala2982Thr) c.6541G>A (p.Ala2181Thr) | |
2 | g.237336154T>A | CA431698366 | COL6A3 | c.1591A>T c.8328A>T (p.Pro2776=) c.1073A>T n.1213A>T c.8946A>T (p.Pro2982=) c.7122A>T (p.Pro2374=) c.7125A>T (p.Pro2375=) n.5388A>T c.8346A>T (p.Pro2782=) c.7725A>T (p.Pro2575=) c.8445A>T (p.Pro2815=) c.8943A>T (p.Pro2981=) c.6540A>T (p.Pro2180=) | |
2 | g.237336154T>C | CA431698368 | COL6A3 | c.1591A>G c.8328A>G (p.Pro2776=) c.1073A>G n.1213A>G c.8946A>G (p.Pro2982=) c.7122A>G (p.Pro2374=) c.7125A>G (p.Pro2375=) n.5388A>G c.8346A>G (p.Pro2782=) c.7725A>G (p.Pro2575=) c.8445A>G (p.Pro2815=) c.8943A>G (p.Pro2981=) c.6540A>G (p.Pro2180=) | |
2 | g.237336154T>G | CA431698370 | COL6A3 | c.1591A>C c.8328A>C (p.Pro2776=) c.1073A>C n.1213A>C c.8946A>C (p.Pro2982=) c.7122A>C (p.Pro2374=) c.7125A>C (p.Pro2375=) n.5388A>C c.8346A>C (p.Pro2782=) c.7725A>C (p.Pro2575=) c.8445A>C (p.Pro2815=) c.8943A>C (p.Pro2981=) c.6540A>C (p.Pro2180=) | |
2 | g.237336155G>A | CA351190927 | COL6A3 | c.1590C>T c.8327C>T (p.Pro2776Leu) c.1072C>T n.1212C>T c.8945C>T (p.Pro2982Leu) c.7121C>T (p.Pro2374Leu) c.7124C>T (p.Pro2375Leu) n.5387C>T c.8345C>T (p.Pro2782Leu) c.7724C>T (p.Pro2575Leu) c.8444C>T (p.Pro2815Leu) c.8942C>T (p.Pro2981Leu) c.6539C>T (p.Pro2180Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.237336155G>C | CA351190929 | COL6A3 | c.1590C>G c.8327C>G (p.Pro2776Arg) c.1072C>G n.1212C>G c.8945C>G (p.Pro2982Arg) c.7121C>G (p.Pro2374Arg) c.7124C>G (p.Pro2375Arg) n.5387C>G c.8345C>G (p.Pro2782Arg) c.7724C>G (p.Pro2575Arg) c.8444C>G (p.Pro2815Arg) c.8942C>G (p.Pro2981Arg) c.6539C>G (p.Pro2180Arg) | |
2 | g.237336155G= | CA1337607054 | COL6A3 | c.1590C= c.8327C= (p.Pro2776=) c.1072C= n.1212C= c.8945C= (p.Pro2982=) c.7121C= (p.Pro2374=) c.7124C= (p.Pro2375=) n.5387C= c.8345C= (p.Pro2782=) c.7724C= (p.Pro2575=) c.8444C= (p.Pro2815=) c.8942C= (p.Pro2981=) c.6539C= (p.Pro2180=) | |
2 | g.237336155G>T | CA351190931 | COL6A3 | c.1590C>A c.8327C>A (p.Pro2776Gln) c.1072C>A n.1212C>A c.8945C>A (p.Pro2982Gln) c.7121C>A (p.Pro2374Gln) c.7124C>A (p.Pro2375Gln) n.5387C>A c.8345C>A (p.Pro2782Gln) c.7724C>A (p.Pro2575Gln) c.8444C>A (p.Pro2815Gln) c.8942C>A (p.Pro2981Gln) c.6539C>A (p.Pro2180Gln) | gnomAD v4 |
2 | g.237336156G>A | CA351190935 | COL6A3 | c.1589C>T c.8326C>T (p.Pro2776Ser) c.1071C>T n.1211C>T c.8944C>T (p.Pro2982Ser) c.7120C>T (p.Pro2374Ser) c.7123C>T (p.Pro2375Ser) n.5386C>T c.8344C>T (p.Pro2782Ser) c.7723C>T (p.Pro2575Ser) c.8443C>T (p.Pro2815Ser) c.8941C>T (p.Pro2981Ser) c.6538C>T (p.Pro2180Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237336156G>C | CA351190937 | COL6A3 | c.1589C>G c.8326C>G (p.Pro2776Ala) c.1071C>G n.1211C>G c.8944C>G (p.Pro2982Ala) c.7120C>G (p.Pro2374Ala) c.7123C>G (p.Pro2375Ala) n.5386C>G c.8344C>G (p.Pro2782Ala) c.7723C>G (p.Pro2575Ala) c.8443C>G (p.Pro2815Ala) c.8941C>G (p.Pro2981Ala) c.6538C>G (p.Pro2180Ala) | dbSNP |
2 | g.237336156G= | CA1337607055 | COL6A3 | c.1589C= c.8326C= (p.Pro2776=) c.1071C= n.1211C= c.8944C= (p.Pro2982=) c.7120C= (p.Pro2374=) c.7123C= (p.Pro2375=) n.5386C= c.8344C= (p.Pro2782=) c.7723C= (p.Pro2575=) c.8443C= (p.Pro2815=) c.8941C= (p.Pro2981=) c.6538C= (p.Pro2180=) | |
2 | g.237336156G>T | CA351190934 | COL6A3 | c.1589C>A c.8326C>A (p.Pro2776Thr) c.1071C>A n.1211C>A c.8944C>A (p.Pro2982Thr) c.7120C>A (p.Pro2374Thr) c.7123C>A (p.Pro2375Thr) n.5386C>A c.8344C>A (p.Pro2782Thr) c.7723C>A (p.Pro2575Thr) c.8443C>A (p.Pro2815Thr) c.8941C>A (p.Pro2981Thr) c.6538C>A (p.Pro2180Thr) | |
2 | g.237336157C>A | CA351190938 | COL6A3 | c.1588G>T c.8325G>T (p.Lys2775Asn) c.1070G>T n.1210G>T c.8943G>T (p.Lys2981Asn) c.7119G>T (p.Lys2373Asn) c.7122G>T (p.Lys2374Asn) n.5385G>T c.8343G>T (p.Lys2781Asn) c.7722G>T (p.Lys2574Asn) c.8442G>T (p.Lys2814Asn) c.8940G>T (p.Lys2980Asn) c.6537G>T (p.Lys2179Asn) | |
2 | g.237336157C>G | CA351190940 | COL6A3 | c.1588G>C c.8325G>C (p.Lys2775Asn) c.1070G>C n.1210G>C c.8943G>C (p.Lys2981Asn) c.7119G>C (p.Lys2373Asn) c.7122G>C (p.Lys2374Asn) n.5385G>C c.8343G>C (p.Lys2781Asn) c.7722G>C (p.Lys2574Asn) c.8442G>C (p.Lys2814Asn) c.8940G>C (p.Lys2980Asn) c.6537G>C (p.Lys2179Asn) | |
2 | g.237336157C>T | CA431698383 | COL6A3 | c.1588G>A c.8325G>A (p.Lys2775=) c.1070G>A n.1210G>A c.8943G>A (p.Lys2981=) c.7119G>A (p.Lys2373=) c.7122G>A (p.Lys2374=) n.5385G>A c.8343G>A (p.Lys2781=) c.7722G>A (p.Lys2574=) c.8442G>A (p.Lys2814=) c.8940G>A (p.Lys2980=) c.6537G>A (p.Lys2179=) | |
2 | g.237336158T>A | CA351190943 | COL6A3 | c.1587A>T c.8324A>T (p.Lys2775Met) c.1069A>T n.1209A>T c.8942A>T (p.Lys2981Met) c.7118A>T (p.Lys2373Met) c.7121A>T (p.Lys2374Met) n.5384A>T c.8342A>T (p.Lys2781Met) c.7721A>T (p.Lys2574Met) c.8441A>T (p.Lys2814Met) c.8939A>T (p.Lys2980Met) c.6536A>T (p.Lys2179Met) | |
2 | g.237336158T>C | CA351190944 | COL6A3 | c.1587A>G c.8324A>G (p.Lys2775Arg) c.1069A>G n.1209A>G c.8942A>G (p.Lys2981Arg) c.7118A>G (p.Lys2373Arg) c.7121A>G (p.Lys2374Arg) n.5384A>G c.8342A>G (p.Lys2781Arg) c.7721A>G (p.Lys2574Arg) c.8441A>G (p.Lys2814Arg) c.8939A>G (p.Lys2980Arg) c.6536A>G (p.Lys2179Arg) | |
2 | g.237336158T>G | CA2187409 | COL6A3 | c.1587A>C c.8324A>C (p.Lys2775Thr) c.1069A>C n.1209A>C c.8942A>C (p.Lys2981Thr) c.7118A>C (p.Lys2373Thr) c.7121A>C (p.Lys2374Thr) n.5384A>C c.8342A>C (p.Lys2781Thr) c.7721A>C (p.Lys2574Thr) c.8441A>C (p.Lys2814Thr) c.8939A>C (p.Lys2980Thr) c.6536A>C (p.Lys2179Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237336158T= | CA1337607056 | COL6A3 | c.1587A= c.8324A= (p.Lys2775=) c.1069A= n.1209A= c.8942A= (p.Lys2981=) c.7118A= (p.Lys2373=) c.7121A= (p.Lys2374=) n.5384A= c.8342A= (p.Lys2781=) c.7721A= (p.Lys2574=) c.8441A= (p.Lys2814=) c.8939A= (p.Lys2980=) c.6536A= (p.Lys2179=) | |
2 | g.237336159T>A | CA351190951 | COL6A3 | c.1586A>T c.8323A>T (p.Lys2775Ter) c.1068A>T n.1208A>T c.8941A>T (p.Lys2981Ter) c.7117A>T (p.Lys2373Ter) c.7120A>T (p.Lys2374Ter) n.5383A>T c.8341A>T (p.Lys2781Ter) c.7720A>T (p.Lys2574Ter) c.8440A>T (p.Lys2814Ter) c.8938A>T (p.Lys2980Ter) c.6535A>T (p.Lys2179Ter) | |
2 | g.237336159T>C | CA351190949 | COL6A3 | c.1586A>G c.8323A>G (p.Lys2775Glu) c.1068A>G n.1208A>G c.8941A>G (p.Lys2981Glu) c.7117A>G (p.Lys2373Glu) c.7120A>G (p.Lys2374Glu) n.5383A>G c.8341A>G (p.Lys2781Glu) c.7720A>G (p.Lys2574Glu) c.8440A>G (p.Lys2814Glu) c.8938A>G (p.Lys2980Glu) c.6535A>G (p.Lys2179Glu) | gnomAD v4 |
2 | g.237336159T>G | CA351190948 | COL6A3 | c.1586A>C c.8323A>C (p.Lys2775Gln) c.1068A>C n.1208A>C c.8941A>C (p.Lys2981Gln) c.7117A>C (p.Lys2373Gln) c.7120A>C (p.Lys2374Gln) n.5383A>C c.8341A>C (p.Lys2781Gln) c.7720A>C (p.Lys2574Gln) c.8440A>C (p.Lys2814Gln) c.8938A>C (p.Lys2980Gln) c.6535A>C (p.Lys2179Gln) | |
2 | g.237336160G>A | CA431698395 | COL6A3 | c.1585C>T c.8322C>T (p.Thr2774=) c.1067C>T n.1207C>T c.8940C>T (p.Thr2980=) c.7116C>T (p.Thr2372=) c.7119C>T (p.Thr2373=) n.5382C>T c.8340C>T (p.Thr2780=) c.7719C>T (p.Thr2573=) c.8439C>T (p.Thr2813=) c.8937C>T (p.Thr2979=) c.6534C>T (p.Thr2178=) | |
2 | g.237336160G>C | CA431698397 | COL6A3 | c.1585C>G c.8322C>G (p.Thr2774=) c.1067C>G n.1207C>G c.8940C>G (p.Thr2980=) c.7116C>G (p.Thr2372=) c.7119C>G (p.Thr2373=) n.5382C>G c.8340C>G (p.Thr2780=) c.7719C>G (p.Thr2573=) c.8439C>G (p.Thr2813=) c.8937C>G (p.Thr2979=) c.6534C>G (p.Thr2178=) | gnomAD v4 |
2 | g.237336160G>T | CA431698399 | COL6A3 | c.1585C>A c.8322C>A (p.Thr2774=) c.1067C>A n.1207C>A c.8940C>A (p.Thr2980=) c.7116C>A (p.Thr2372=) c.7119C>A (p.Thr2373=) n.5382C>A c.8340C>A (p.Thr2780=) c.7719C>A (p.Thr2573=) c.8439C>A (p.Thr2813=) c.8937C>A (p.Thr2979=) c.6534C>A (p.Thr2178=) | |
2 | g.237336161del | CA2663792155 | COL6A3 | c.1585del c.8322del (p.Lys2775SerfsTer20) c.1067del n.1207del c.8940del (p.Lys2981SerfsTer20) c.7116del (p.Lys2373SerfsTer20) c.7119del (p.Lys2374SerfsTer20) n.5382del c.8340del (p.Lys2781SerfsTer20) c.7719del (p.Lys2574SerfsTer20) c.8439del (p.Lys2814SerfsTer20) c.8937del (p.Lys2980SerfsTer20) c.6534del (p.Lys2179SerfsTer20) | gnomAD v4 |
2 | g.237336161G>A | CA351190953 | COL6A3 | c.1584C>T c.8321C>T (p.Thr2774Ile) c.1066C>T n.1206C>T c.8939C>T (p.Thr2980Ile) c.7115C>T (p.Thr2372Ile) c.7118C>T (p.Thr2373Ile) n.5381C>T c.8339C>T (p.Thr2780Ile) c.7718C>T (p.Thr2573Ile) c.8438C>T (p.Thr2813Ile) c.8936C>T (p.Thr2979Ile) c.6533C>T (p.Thr2178Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336161G>C | CA351190955 | COL6A3 | c.1584C>G c.8321C>G (p.Thr2774Ser) c.1066C>G n.1206C>G c.8939C>G (p.Thr2980Ser) c.7115C>G (p.Thr2372Ser) c.7118C>G (p.Thr2373Ser) n.5381C>G c.8339C>G (p.Thr2780Ser) c.7718C>G (p.Thr2573Ser) c.8438C>G (p.Thr2813Ser) c.8936C>G (p.Thr2979Ser) c.6533C>G (p.Thr2178Ser) | |
2 | g.237336161G= | CA1337607057 | COL6A3 | c.1584C= c.8321C= (p.Thr2774=) c.1066C= n.1206C= c.8939C= (p.Thr2980=) c.7115C= (p.Thr2372=) c.7118C= (p.Thr2373=) n.5381C= c.8339C= (p.Thr2780=) c.7718C= (p.Thr2573=) c.8438C= (p.Thr2813=) c.8936C= (p.Thr2979=) c.6533C= (p.Thr2178=) | |
2 | g.237336161G>T | CA351190956 | COL6A3 | c.1584C>A c.8321C>A (p.Thr2774Asn) c.1066C>A n.1206C>A c.8939C>A (p.Thr2980Asn) c.7115C>A (p.Thr2372Asn) c.7118C>A (p.Thr2373Asn) n.5381C>A c.8339C>A (p.Thr2780Asn) c.7718C>A (p.Thr2573Asn) c.8438C>A (p.Thr2813Asn) c.8936C>A (p.Thr2979Asn) c.6533C>A (p.Thr2178Asn) | |
2 | g.237336162T>A | CA351190959 | COL6A3 | c.1583A>T c.8320A>T (p.Thr2774Ser) c.1065A>T n.1205A>T c.8938A>T (p.Thr2980Ser) c.7114A>T (p.Thr2372Ser) c.7117A>T (p.Thr2373Ser) n.5380A>T c.8338A>T (p.Thr2780Ser) c.7717A>T (p.Thr2573Ser) c.8437A>T (p.Thr2813Ser) c.8935A>T (p.Thr2979Ser) c.6532A>T (p.Thr2178Ser) | |
2 | g.237336162T>C | CA351190960 | COL6A3 | c.1583A>G c.8320A>G (p.Thr2774Ala) c.1065A>G n.1205A>G c.8938A>G (p.Thr2980Ala) c.7114A>G (p.Thr2372Ala) c.7117A>G (p.Thr2373Ala) n.5380A>G c.8338A>G (p.Thr2780Ala) c.7717A>G (p.Thr2573Ala) c.8437A>G (p.Thr2813Ala) c.8935A>G (p.Thr2979Ala) c.6532A>G (p.Thr2178Ala) | |
2 | g.237336162T>G | CA351190961 | COL6A3 | c.1583A>C c.8320A>C (p.Thr2774Pro) c.1065A>C n.1205A>C c.8938A>C (p.Thr2980Pro) c.7114A>C (p.Thr2372Pro) c.7117A>C (p.Thr2373Pro) n.5380A>C c.8338A>C (p.Thr2780Pro) c.7717A>C (p.Thr2573Pro) c.8437A>C (p.Thr2813Pro) c.8935A>C (p.Thr2979Pro) c.6532A>C (p.Thr2178Pro) | gnomAD v4 |
2 | g.237336163G>A | CA67830327 | COL6A3 | c.1582C>T c.8319C>T (p.Ala2773=) c.1064C>T n.1204C>T c.8937C>T (p.Ala2979=) c.7113C>T (p.Ala2371=) c.7116C>T (p.Ala2372=) n.5379C>T c.8337C>T (p.Ala2779=) c.7716C>T (p.Ala2572=) c.8436C>T (p.Ala2812=) c.8934C>T (p.Ala2978=) c.6531C>T (p.Ala2177=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237336163G>C | CA431698412 | COL6A3 | c.1582C>G c.8319C>G (p.Ala2773=) c.1064C>G n.1204C>G c.8937C>G (p.Ala2979=) c.7113C>G (p.Ala2371=) c.7116C>G (p.Ala2372=) n.5379C>G c.8337C>G (p.Ala2779=) c.7716C>G (p.Ala2572=) c.8436C>G (p.Ala2812=) c.8934C>G (p.Ala2978=) c.6531C>G (p.Ala2177=) | |
2 | g.237336163G= | CA1337607058 | COL6A3 | c.1582C= c.8319C= (p.Ala2773=) c.1064C= n.1204C= c.8937C= (p.Ala2979=) c.7113C= (p.Ala2371=) c.7116C= (p.Ala2372=) n.5379C= c.8337C= (p.Ala2779=) c.7716C= (p.Ala2572=) c.8436C= (p.Ala2812=) c.8934C= (p.Ala2978=) c.6531C= (p.Ala2177=) | |
2 | g.237336163G>T | CA431698414 | COL6A3 | c.1582C>A c.8319C>A (p.Ala2773=) c.1064C>A n.1204C>A c.8937C>A (p.Ala2979=) c.7113C>A (p.Ala2371=) c.7116C>A (p.Ala2372=) n.5379C>A c.8337C>A (p.Ala2779=) c.7716C>A (p.Ala2572=) c.8436C>A (p.Ala2812=) c.8934C>A (p.Ala2978=) c.6531C>A (p.Ala2177=) | |
2 | g.237336164G>A | CA351190966 | COL6A3 | c.1581C>T c.8318C>T (p.Ala2773Val) c.1063C>T n.1203C>T c.8936C>T (p.Ala2979Val) c.7112C>T (p.Ala2371Val) c.7115C>T (p.Ala2372Val) n.5378C>T c.8336C>T (p.Ala2779Val) c.7715C>T (p.Ala2572Val) c.8435C>T (p.Ala2812Val) c.8933C>T (p.Ala2978Val) c.6530C>T (p.Ala2177Val) | |
2 | g.237336164G>C | CA351190968 | COL6A3 | c.1581C>G c.8318C>G (p.Ala2773Gly) c.1063C>G n.1203C>G c.8936C>G (p.Ala2979Gly) c.7112C>G (p.Ala2371Gly) c.7115C>G (p.Ala2372Gly) n.5378C>G c.8336C>G (p.Ala2779Gly) c.7715C>G (p.Ala2572Gly) c.8435C>G (p.Ala2812Gly) c.8933C>G (p.Ala2978Gly) c.6530C>G (p.Ala2177Gly) | |
2 | g.237336164G>T | CA351190965 | COL6A3 | c.1581C>A c.8318C>A (p.Ala2773Asp) c.1063C>A n.1203C>A c.8936C>A (p.Ala2979Asp) c.7112C>A (p.Ala2371Asp) c.7115C>A (p.Ala2372Asp) n.5378C>A c.8336C>A (p.Ala2779Asp) c.7715C>A (p.Ala2572Asp) c.8435C>A (p.Ala2812Asp) c.8933C>A (p.Ala2978Asp) c.6530C>A (p.Ala2177Asp) | |
2 | g.237336165C>A | CA351190972 | COL6A3 | c.1580G>T c.8317G>T (p.Ala2773Ser) c.1062G>T n.1202G>T c.8935G>T (p.Ala2979Ser) c.7111G>T (p.Ala2371Ser) c.7114G>T (p.Ala2372Ser) n.5377G>T c.8335G>T (p.Ala2779Ser) c.7714G>T (p.Ala2572Ser) c.8434G>T (p.Ala2812Ser) c.8932G>T (p.Ala2978Ser) c.6529G>T (p.Ala2177Ser) | |
2 | g.237336165C= | CA1337607059 | COL6A3 | c.1580G= c.8317G= (p.Ala2773=) c.1062G= n.1202G= c.8935G= (p.Ala2979=) c.7111G= (p.Ala2371=) c.7114G= (p.Ala2372=) n.5377G= c.8335G= (p.Ala2779=) c.7714G= (p.Ala2572=) c.8434G= (p.Ala2812=) c.8932G= (p.Ala2978=) c.6529G= (p.Ala2177=) | |
2 | g.237336165C>G | CA351190971 | COL6A3 | c.1580G>C c.8317G>C (p.Ala2773Pro) c.1062G>C n.1202G>C c.8935G>C (p.Ala2979Pro) c.7111G>C (p.Ala2371Pro) c.7114G>C (p.Ala2372Pro) n.5377G>C c.8335G>C (p.Ala2779Pro) c.7714G>C (p.Ala2572Pro) c.8434G>C (p.Ala2812Pro) c.8932G>C (p.Ala2978Pro) c.6529G>C (p.Ala2177Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336165C>T | CA351190974 | COL6A3 | c.1580G>A c.8317G>A (p.Ala2773Thr) c.1062G>A n.1202G>A c.8935G>A (p.Ala2979Thr) c.7111G>A (p.Ala2371Thr) c.7114G>A (p.Ala2372Thr) n.5377G>A c.8335G>A (p.Ala2779Thr) c.7714G>A (p.Ala2572Thr) c.8434G>A (p.Ala2812Thr) c.8932G>A (p.Ala2978Thr) c.6529G>A (p.Ala2177Thr) | dbSNP |
2 | g.237336166A>C | CA431698430 | COL6A3 | c.1579T>G c.8316T>G (p.Ala2772=) c.1061T>G n.1201T>G c.8934T>G (p.Ala2978=) c.7110T>G (p.Ala2370=) c.7113T>G (p.Ala2371=) n.5376T>G c.8334T>G (p.Ala2778=) c.7713T>G (p.Ala2571=) c.8433T>G (p.Ala2811=) c.8931T>G (p.Ala2977=) c.6528T>G (p.Ala2176=) | |
2 | g.237336166A>G | CA431698434 | COL6A3 | c.1579T>C c.8316T>C (p.Ala2772=) c.1061T>C n.1201T>C c.8934T>C (p.Ala2978=) c.7110T>C (p.Ala2370=) c.7113T>C (p.Ala2371=) n.5376T>C c.8334T>C (p.Ala2778=) c.7713T>C (p.Ala2571=) c.8433T>C (p.Ala2811=) c.8931T>C (p.Ala2977=) c.6528T>C (p.Ala2176=) | |
2 | g.237336166A>T | CA431698431 | COL6A3 | c.1579T>A c.8316T>A (p.Ala2772=) c.1061T>A n.1201T>A c.8934T>A (p.Ala2978=) c.7110T>A (p.Ala2370=) c.7113T>A (p.Ala2371=) n.5376T>A c.8334T>A (p.Ala2778=) c.7713T>A (p.Ala2571=) c.8433T>A (p.Ala2811=) c.8931T>A (p.Ala2977=) c.6528T>A (p.Ala2176=) | |
2 | g.237336167G>A | CA351190976 | COL6A3 | c.1578C>T c.8315C>T (p.Ala2772Val) c.1060C>T n.1200C>T c.8933C>T (p.Ala2978Val) c.7109C>T (p.Ala2370Val) c.7112C>T (p.Ala2371Val) n.5375C>T c.8333C>T (p.Ala2778Val) c.7712C>T (p.Ala2571Val) c.8432C>T (p.Ala2811Val) c.8930C>T (p.Ala2977Val) c.6527C>T (p.Ala2176Val) | |
2 | g.237336167G>C | CA351190978 | COL6A3 | c.1578C>G c.8315C>G (p.Ala2772Gly) c.1060C>G n.1200C>G c.8933C>G (p.Ala2978Gly) c.7109C>G (p.Ala2370Gly) c.7112C>G (p.Ala2371Gly) n.5375C>G c.8333C>G (p.Ala2778Gly) c.7712C>G (p.Ala2571Gly) c.8432C>G (p.Ala2811Gly) c.8930C>G (p.Ala2977Gly) c.6527C>G (p.Ala2176Gly) | |
2 | g.237336167G>T | CA351190980 | COL6A3 | c.1578C>A c.8315C>A (p.Ala2772Asp) c.1060C>A n.1200C>A c.8933C>A (p.Ala2978Asp) c.7109C>A (p.Ala2370Asp) c.7112C>A (p.Ala2371Asp) n.5375C>A c.8333C>A (p.Ala2778Asp) c.7712C>A (p.Ala2571Asp) c.8432C>A (p.Ala2811Asp) c.8930C>A (p.Ala2977Asp) c.6527C>A (p.Ala2176Asp) | |
2 | g.237336168C>A | CA351190982 | COL6A3 | c.1577G>T c.8314G>T (p.Ala2772Ser) c.1059G>T n.1199G>T c.8932G>T (p.Ala2978Ser) c.7108G>T (p.Ala2370Ser) c.7111G>T (p.Ala2371Ser) n.5374G>T c.8332G>T (p.Ala2778Ser) c.7711G>T (p.Ala2571Ser) c.8431G>T (p.Ala2811Ser) c.8929G>T (p.Ala2977Ser) c.6526G>T (p.Ala2176Ser) | |
2 | g.237336168C= | CA1337607060 | COL6A3 | c.1577G= c.8314G= (p.Ala2772=) c.1059G= n.1199G= c.8932G= (p.Ala2978=) c.7108G= (p.Ala2370=) c.7111G= (p.Ala2371=) n.5374G= c.8332G= (p.Ala2778=) c.7711G= (p.Ala2571=) c.8431G= (p.Ala2811=) c.8929G= (p.Ala2977=) c.6526G= (p.Ala2176=) | |
2 | g.237336168C>G | CA351190984 | COL6A3 | c.1577G>C c.8314G>C (p.Ala2772Pro) c.1059G>C n.1199G>C c.8932G>C (p.Ala2978Pro) c.7108G>C (p.Ala2370Pro) c.7111G>C (p.Ala2371Pro) n.5374G>C c.8332G>C (p.Ala2778Pro) c.7711G>C (p.Ala2571Pro) c.8431G>C (p.Ala2811Pro) c.8929G>C (p.Ala2977Pro) c.6526G>C (p.Ala2176Pro) | |
2 | g.237336168C>T | CA2187410 | COL6A3 | c.1577G>A c.8314G>A (p.Ala2772Thr) c.1059G>A n.1199G>A c.8932G>A (p.Ala2978Thr) c.7108G>A (p.Ala2370Thr) c.7111G>A (p.Ala2371Thr) n.5374G>A c.8332G>A (p.Ala2778Thr) c.7711G>A (p.Ala2571Thr) c.8431G>A (p.Ala2811Thr) c.8929G>A (p.Ala2977Thr) c.6526G>A (p.Ala2176Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237336168_237336169delinsCT | CA1337607061 | COL6A3 | c.1576_1577delinsAG c.8313_8314delinsAG (p.Pro2771=) c.1058_1059delinsAG n.1198_1199delinsAG c.8931_8932delinsAG (p.Pro2977=) c.7107_7108delinsAG (p.Pro2369=) c.7110_7111delinsAG (p.Pro2370=) n.5373_5374delinsAG c.8331_8332delinsAG (p.Pro2777=) c.7710_7711delinsAG (p.Pro2570=) c.8430_8431delinsAG (p.Pro2810=) c.8928_8929delinsAG (p.Pro2976=) c.6525_6526delinsAG (p.Pro2175=) | |
2 | g.237336169del | CA658657257 | COL6A3 | c.1576del c.8313del (p.Ala2772LeufsTer23) c.1058del n.1198del c.8931del (p.Ala2978LeufsTer23) c.7107del (p.Ala2370LeufsTer23) c.7110del (p.Ala2371LeufsTer23) n.5373del c.8331del (p.Ala2778LeufsTer23) c.7710del (p.Ala2571LeufsTer23) c.8430del (p.Ala2811LeufsTer23) c.8928del (p.Ala2977LeufsTer23) c.6525del (p.Ala2176LeufsTer23) | ClinVar dbSNP |
2 | g.237336169T>A | CA431698452 | COL6A3 | c.1576A>T c.8313A>T (p.Pro2771=) c.1058A>T n.1198A>T c.8931A>T (p.Pro2977=) c.7107A>T (p.Pro2369=) c.7110A>T (p.Pro2370=) n.5373A>T c.8331A>T (p.Pro2777=) c.7710A>T (p.Pro2570=) c.8430A>T (p.Pro2810=) c.8928A>T (p.Pro2976=) c.6525A>T (p.Pro2175=) | |
2 | g.237336169T>C | CA2187411 | COL6A3 | c.1576A>G c.8313A>G (p.Pro2771=) c.1058A>G n.1198A>G c.8931A>G (p.Pro2977=) c.7107A>G (p.Pro2369=) c.7110A>G (p.Pro2370=) n.5373A>G c.8331A>G (p.Pro2777=) c.7710A>G (p.Pro2570=) c.8430A>G (p.Pro2810=) c.8928A>G (p.Pro2976=) c.6525A>G (p.Pro2175=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237336169T>G | CA431698449 | COL6A3 | c.1576A>C c.8313A>C (p.Pro2771=) c.1058A>C n.1198A>C c.8931A>C (p.Pro2977=) c.7107A>C (p.Pro2369=) c.7110A>C (p.Pro2370=) n.5373A>C c.8331A>C (p.Pro2777=) c.7710A>C (p.Pro2570=) c.8430A>C (p.Pro2810=) c.8928A>C (p.Pro2976=) c.6525A>C (p.Pro2175=) | |
2 | g.237336169T= | CA1337607062 | COL6A3 | c.1576A= c.8313A= (p.Pro2771=) c.1058A= n.1198A= c.8931A= (p.Pro2977=) c.7107A= (p.Pro2369=) c.7110A= (p.Pro2370=) n.5373A= c.8331A= (p.Pro2777=) c.7710A= (p.Pro2570=) c.8430A= (p.Pro2810=) c.8928A= (p.Pro2976=) c.6525A= (p.Pro2175=) | |
2 | g.237336170G>A | CA351190988 | COL6A3 | c.1575C>T c.8312C>T (p.Pro2771Leu) c.1057C>T n.1197C>T c.8930C>T (p.Pro2977Leu) c.7106C>T (p.Pro2369Leu) c.7109C>T (p.Pro2370Leu) n.5372C>T c.8330C>T (p.Pro2777Leu) c.7709C>T (p.Pro2570Leu) c.8429C>T (p.Pro2810Leu) c.8927C>T (p.Pro2976Leu) c.6524C>T (p.Pro2175Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.237336170G>C | CA351190989 | COL6A3 | c.1575C>G c.8312C>G (p.Pro2771Arg) c.1057C>G n.1197C>G c.8930C>G (p.Pro2977Arg) c.7106C>G (p.Pro2369Arg) c.7109C>G (p.Pro2370Arg) n.5372C>G c.8330C>G (p.Pro2777Arg) c.7709C>G (p.Pro2570Arg) c.8429C>G (p.Pro2810Arg) c.8927C>G (p.Pro2976Arg) c.6524C>G (p.Pro2175Arg) | |
2 | g.237336170G= | CA1337607063 | COL6A3 | c.1575C= c.8312C= (p.Pro2771=) c.1057C= n.1197C= c.8930C= (p.Pro2977=) c.7106C= (p.Pro2369=) c.7109C= (p.Pro2370=) n.5372C= c.8330C= (p.Pro2777=) c.7709C= (p.Pro2570=) c.8429C= (p.Pro2810=) c.8927C= (p.Pro2976=) c.6524C= (p.Pro2175=) | |
2 | g.237336170G>T | CA351190991 | COL6A3 | c.1575C>A c.8312C>A (p.Pro2771Gln) c.1057C>A n.1197C>A c.8930C>A (p.Pro2977Gln) c.7106C>A (p.Pro2369Gln) c.7109C>A (p.Pro2370Gln) n.5372C>A c.8330C>A (p.Pro2777Gln) c.7709C>A (p.Pro2570Gln) c.8429C>A (p.Pro2810Gln) c.8927C>A (p.Pro2976Gln) c.6524C>A (p.Pro2175Gln) | dbSNP |
2 | g.237336171G>A | CA351190994 | COL6A3 | c.1574C>T c.8311C>T (p.Pro2771Ser) c.1056C>T n.1196C>T c.8929C>T (p.Pro2977Ser) c.7105C>T (p.Pro2369Ser) c.7108C>T (p.Pro2370Ser) n.5371C>T c.8329C>T (p.Pro2777Ser) c.7708C>T (p.Pro2570Ser) c.8428C>T (p.Pro2810Ser) c.8926C>T (p.Pro2976Ser) c.6523C>T (p.Pro2175Ser) | gnomAD v4 |
2 | g.237336171G>C | CA351190995 | COL6A3 | c.1574C>G c.8311C>G (p.Pro2771Ala) c.1056C>G n.1196C>G c.8929C>G (p.Pro2977Ala) c.7105C>G (p.Pro2369Ala) c.7108C>G (p.Pro2370Ala) n.5371C>G c.8329C>G (p.Pro2777Ala) c.7708C>G (p.Pro2570Ala) c.8428C>G (p.Pro2810Ala) c.8926C>G (p.Pro2976Ala) c.6523C>G (p.Pro2175Ala) | |
2 | g.237336171G>T | CA351190997 | COL6A3 | c.1574C>A c.8311C>A (p.Pro2771Thr) c.1056C>A n.1196C>A c.8929C>A (p.Pro2977Thr) c.7105C>A (p.Pro2369Thr) c.7108C>A (p.Pro2370Thr) n.5371C>A c.8329C>A (p.Pro2777Thr) c.7708C>A (p.Pro2570Thr) c.8428C>A (p.Pro2810Thr) c.8926C>A (p.Pro2976Thr) c.6523C>A (p.Pro2175Thr) | gnomAD v4 |
2 | g.237336172T>A | CA351190999 | COL6A3 | c.1573A>T c.8310A>T (p.Lys2770Asn) c.1055A>T n.1195A>T c.8928A>T (p.Lys2976Asn) c.7104A>T (p.Lys2368Asn) c.7107A>T (p.Lys2369Asn) n.5370A>T c.8328A>T (p.Lys2776Asn) c.7707A>T (p.Lys2569Asn) c.8427A>T (p.Lys2809Asn) c.8925A>T (p.Lys2975Asn) c.6522A>T (p.Lys2174Asn) | |
2 | g.237336172T>C | CA431698462 | COL6A3 | c.1573A>G c.8310A>G (p.Lys2770=) c.1055A>G n.1195A>G c.8928A>G (p.Lys2976=) c.7104A>G (p.Lys2368=) c.7107A>G (p.Lys2369=) n.5370A>G c.8328A>G (p.Lys2776=) c.7707A>G (p.Lys2569=) c.8427A>G (p.Lys2809=) c.8925A>G (p.Lys2975=) c.6522A>G (p.Lys2174=) | |
2 | g.237336172T>G | CA67830342 | COL6A3 | c.1573A>C c.8310A>C (p.Lys2770Asn) c.1055A>C n.1195A>C c.8928A>C (p.Lys2976Asn) c.7104A>C (p.Lys2368Asn) c.7107A>C (p.Lys2369Asn) n.5370A>C c.8328A>C (p.Lys2776Asn) c.7707A>C (p.Lys2569Asn) c.8427A>C (p.Lys2809Asn) c.8925A>C (p.Lys2975Asn) c.6522A>C (p.Lys2174Asn) | dbSNP |
2 | g.237336172T= | CA1337607064 | COL6A3 | c.1573A= c.8310A= (p.Lys2770=) c.1055A= n.1195A= c.8928A= (p.Lys2976=) c.7104A= (p.Lys2368=) c.7107A= (p.Lys2369=) n.5370A= c.8328A= (p.Lys2776=) c.7707A= (p.Lys2569=) c.8427A= (p.Lys2809=) c.8925A= (p.Lys2975=) c.6522A= (p.Lys2174=) | |
2 | g.237336179_237336180insGCTTGGTGGCAGCTGCTTTGGCTG | CA2739278491 | COL6A3 | c.1573_1574insGCAGCTGCCACCAAGCCAGCCAAA c.8310_8311insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2770_Pro2771insAlaAlaAlaThrLysProAlaLys) c.1055_1056insGCAGCTGCCACCAAGCCAGCCAAA n.1195_1196insGCAGCTGCCACCAAGCCAGCCAAA c.8928_8929insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2976_Pro2977insAlaAlaAlaThrLysProAlaLys) c.7104_7105insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2368_Pro2369insAlaAlaAlaThrLysProAlaLys) c.7107_7108insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2369_Pro2370insAlaAlaAlaThrLysProAlaLys) n.5370_5371insGCAGCTGCCACCAAGCCAGCCAAA c.8328_8329insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2776_Pro2777insAlaAlaAlaThrLysProAlaLys) c.7707_7708insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2569_Pro2570insAlaAlaAlaThrLysProAlaLys) c.8427_8428insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2809_Pro2810insAlaAlaAlaThrLysProAlaLys) c.8925_8926insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2975_Pro2976insAlaAlaAlaThrLysProAlaLys) c.6522_6523insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2174_Pro2175insAlaAlaAlaThrLysProAlaLys) | ClinVar |
2 | g.237336173T>A | CA351191001 | COL6A3 | c.1572A>T c.8309A>T (p.Lys2770Ile) c.1054A>T n.1194A>T c.8927A>T (p.Lys2976Ile) c.7103A>T (p.Lys2368Ile) c.7106A>T (p.Lys2369Ile) n.5369A>T c.8327A>T (p.Lys2776Ile) c.7706A>T (p.Lys2569Ile) c.8426A>T (p.Lys2809Ile) c.8924A>T (p.Lys2975Ile) c.6521A>T (p.Lys2174Ile) | |
2 | g.237336173T>C | CA351191003 | COL6A3 | c.1572A>G c.8309A>G (p.Lys2770Arg) c.1054A>G n.1194A>G c.8927A>G (p.Lys2976Arg) c.7103A>G (p.Lys2368Arg) c.7106A>G (p.Lys2369Arg) n.5369A>G c.8327A>G (p.Lys2776Arg) c.7706A>G (p.Lys2569Arg) c.8426A>G (p.Lys2809Arg) c.8924A>G (p.Lys2975Arg) c.6521A>G (p.Lys2174Arg) | |
2 | g.237336173T>G | CA351191004 | COL6A3 | c.1572A>C c.8309A>C (p.Lys2770Thr) c.1054A>C n.1194A>C c.8927A>C (p.Lys2976Thr) c.7103A>C (p.Lys2368Thr) c.7106A>C (p.Lys2369Thr) n.5369A>C c.8327A>C (p.Lys2776Thr) c.7706A>C (p.Lys2569Thr) c.8426A>C (p.Lys2809Thr) c.8924A>C (p.Lys2975Thr) c.6521A>C (p.Lys2174Thr) | |
2 | g.237336174T>A | CA351191007 | COL6A3 | c.1571A>T c.8308A>T (p.Lys2770Ter) c.1053A>T n.1193A>T c.8926A>T (p.Lys2976Ter) c.7102A>T (p.Lys2368Ter) c.7105A>T (p.Lys2369Ter) n.5368A>T c.8326A>T (p.Lys2776Ter) c.7705A>T (p.Lys2569Ter) c.8425A>T (p.Lys2809Ter) c.8923A>T (p.Lys2975Ter) c.6520A>T (p.Lys2174Ter) | |
2 | g.237336174T>C | CA351191009 | COL6A3 | c.1571A>G c.8308A>G (p.Lys2770Glu) c.1053A>G n.1193A>G c.8926A>G (p.Lys2976Glu) c.7102A>G (p.Lys2368Glu) c.7105A>G (p.Lys2369Glu) n.5368A>G c.8326A>G (p.Lys2776Glu) c.7705A>G (p.Lys2569Glu) c.8425A>G (p.Lys2809Glu) c.8923A>G (p.Lys2975Glu) c.6520A>G (p.Lys2174Glu) | gnomAD v4 |
2 | g.237336174T>G | CA351191010 | COL6A3 | c.1571A>C c.8308A>C (p.Lys2770Gln) c.1053A>C n.1193A>C c.8926A>C (p.Lys2976Gln) c.7102A>C (p.Lys2368Gln) c.7105A>C (p.Lys2369Gln) n.5368A>C c.8326A>C (p.Lys2776Gln) c.7705A>C (p.Lys2569Gln) c.8425A>C (p.Lys2809Gln) c.8923A>C (p.Lys2975Gln) c.6520A>C (p.Lys2174Gln) | |
2 | g.237336175G>A | CA431698478 | COL6A3 | c.1570C>T c.8307C>T (p.Ala2769=) c.1052C>T n.1192C>T c.8925C>T (p.Ala2975=) c.7101C>T (p.Ala2367=) c.7104C>T (p.Ala2368=) n.5367C>T c.8325C>T (p.Ala2775=) c.7704C>T (p.Ala2568=) c.8424C>T (p.Ala2808=) c.8922C>T (p.Ala2974=) c.6519C>T (p.Ala2173=) | |
2 | g.237336175G>C | CA431698480 | COL6A3 | c.1570C>G c.8307C>G (p.Ala2769=) c.1052C>G n.1192C>G c.8925C>G (p.Ala2975=) c.7101C>G (p.Ala2367=) c.7104C>G (p.Ala2368=) n.5367C>G c.8325C>G (p.Ala2775=) c.7704C>G (p.Ala2568=) c.8424C>G (p.Ala2808=) c.8922C>G (p.Ala2974=) c.6519C>G (p.Ala2173=) | |
2 | g.237336175G>T | CA431698483 | COL6A3 | c.1570C>A c.8307C>A (p.Ala2769=) c.1052C>A n.1192C>A c.8925C>A (p.Ala2975=) c.7101C>A (p.Ala2367=) c.7104C>A (p.Ala2368=) n.5367C>A c.8325C>A (p.Ala2775=) c.7704C>A (p.Ala2568=) c.8424C>A (p.Ala2808=) c.8922C>A (p.Ala2974=) c.6519C>A (p.Ala2173=) | |
2 | g.237336176G>A | CA2187412 | COL6A3 | c.1569C>T c.8306C>T (p.Ala2769Val) c.1051C>T n.1191C>T c.8924C>T (p.Ala2975Val) c.7100C>T (p.Ala2367Val) c.7103C>T (p.Ala2368Val) n.5366C>T c.8324C>T (p.Ala2775Val) c.7703C>T (p.Ala2568Val) c.8423C>T (p.Ala2808Val) c.8921C>T (p.Ala2974Val) c.6518C>T (p.Ala2173Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336176G>C | CA351191013 | COL6A3 | c.1569C>G c.8306C>G (p.Ala2769Gly) c.1051C>G n.1191C>G c.8924C>G (p.Ala2975Gly) c.7100C>G (p.Ala2367Gly) c.7103C>G (p.Ala2368Gly) n.5366C>G c.8324C>G (p.Ala2775Gly) c.7703C>G (p.Ala2568Gly) c.8423C>G (p.Ala2808Gly) c.8921C>G (p.Ala2974Gly) c.6518C>G (p.Ala2173Gly) | |
2 | g.237336176G= | CA1337607065 | COL6A3 | c.1569C= c.8306C= (p.Ala2769=) c.1051C= n.1191C= c.8924C= (p.Ala2975=) c.7100C= (p.Ala2367=) c.7103C= (p.Ala2368=) n.5366C= c.8324C= (p.Ala2775=) c.7703C= (p.Ala2568=) c.8423C= (p.Ala2808=) c.8921C= (p.Ala2974=) c.6518C= (p.Ala2173=) | |
2 | g.237336176G>T | CA351191015 | COL6A3 | c.1569C>A c.8306C>A (p.Ala2769Asp) c.1051C>A n.1191C>A c.8924C>A (p.Ala2975Asp) c.7100C>A (p.Ala2367Asp) c.7103C>A (p.Ala2368Asp) n.5366C>A c.8324C>A (p.Ala2775Asp) c.7703C>A (p.Ala2568Asp) c.8423C>A (p.Ala2808Asp) c.8921C>A (p.Ala2974Asp) c.6518C>A (p.Ala2173Asp) | |
2 | g.237336177C>A | CA351191017 | COL6A3 | c.1568G>T c.8305G>T (p.Ala2769Ser) c.1050G>T n.1190G>T c.8923G>T (p.Ala2975Ser) c.7099G>T (p.Ala2367Ser) c.7102G>T (p.Ala2368Ser) n.5365G>T c.8323G>T (p.Ala2775Ser) c.7702G>T (p.Ala2568Ser) c.8422G>T (p.Ala2808Ser) c.8920G>T (p.Ala2974Ser) c.6517G>T (p.Ala2173Ser) | |
2 | g.237336177C>G | CA351191018 | COL6A3 | c.1568G>C c.8305G>C (p.Ala2769Pro) c.1050G>C n.1190G>C c.8923G>C (p.Ala2975Pro) c.7099G>C (p.Ala2367Pro) c.7102G>C (p.Ala2368Pro) n.5365G>C c.8323G>C (p.Ala2775Pro) c.7702G>C (p.Ala2568Pro) c.8422G>C (p.Ala2808Pro) c.8920G>C (p.Ala2974Pro) c.6517G>C (p.Ala2173Pro) | |
2 | g.237336177C>T | CA351191019 | COL6A3 | c.1568G>A c.8305G>A (p.Ala2769Thr) c.1050G>A n.1190G>A c.8923G>A (p.Ala2975Thr) c.7099G>A (p.Ala2367Thr) c.7102G>A (p.Ala2368Thr) n.5365G>A c.8323G>A (p.Ala2775Thr) c.7702G>A (p.Ala2568Thr) c.8422G>A (p.Ala2808Thr) c.8920G>A (p.Ala2974Thr) c.6517G>A (p.Ala2173Thr) | gnomAD v4 |
2 | g.237336178T>A | CA431698499 | COL6A3 | c.1567A>T c.8304A>T (p.Ala2768=) c.1049A>T n.1189A>T c.8922A>T (p.Ala2974=) c.7098A>T (p.Ala2366=) c.7101A>T (p.Ala2367=) n.5364A>T c.8322A>T (p.Ala2774=) c.7701A>T (p.Ala2567=) c.8421A>T (p.Ala2807=) c.8919A>T (p.Ala2973=) c.6516A>T (p.Ala2172=) | |
2 | g.237336178T>C | CA431698503 | COL6A3 | c.1567A>G c.8304A>G (p.Ala2768=) c.1049A>G n.1189A>G c.8922A>G (p.Ala2974=) c.7098A>G (p.Ala2366=) c.7101A>G (p.Ala2367=) n.5364A>G c.8322A>G (p.Ala2774=) c.7701A>G (p.Ala2567=) c.8421A>G (p.Ala2807=) c.8919A>G (p.Ala2973=) c.6516A>G (p.Ala2172=) | gnomAD v4 |
2 | g.237336178T>G | CA431698502 | COL6A3 | c.1567A>C c.8304A>C (p.Ala2768=) c.1049A>C n.1189A>C c.8922A>C (p.Ala2974=) c.7098A>C (p.Ala2366=) c.7101A>C (p.Ala2367=) n.5364A>C c.8322A>C (p.Ala2774=) c.7701A>C (p.Ala2567=) c.8421A>C (p.Ala2807=) c.8919A>C (p.Ala2973=) c.6516A>C (p.Ala2172=) | |
2 | g.237336179G>A | CA351191024 | COL6A3 | c.1566C>T c.8303C>T (p.Ala2768Val) c.1048C>T n.1188C>T c.8921C>T (p.Ala2974Val) c.7097C>T (p.Ala2366Val) c.7100C>T (p.Ala2367Val) n.5363C>T c.8321C>T (p.Ala2774Val) c.7700C>T (p.Ala2567Val) c.8420C>T (p.Ala2807Val) c.8918C>T (p.Ala2973Val) c.6515C>T (p.Ala2172Val) | |
2 | g.237336179G>C | CA351191022 | COL6A3 | c.1566C>G c.8303C>G (p.Ala2768Gly) c.1048C>G n.1188C>G c.8921C>G (p.Ala2974Gly) c.7097C>G (p.Ala2366Gly) c.7100C>G (p.Ala2367Gly) n.5363C>G c.8321C>G (p.Ala2774Gly) c.7700C>G (p.Ala2567Gly) c.8420C>G (p.Ala2807Gly) c.8918C>G (p.Ala2973Gly) c.6515C>G (p.Ala2172Gly) | dbSNP |
2 | g.237336179G= | CA1337607066 | COL6A3 | c.1566C= c.8303C= (p.Ala2768=) c.1048C= n.1188C= c.8921C= (p.Ala2974=) c.7097C= (p.Ala2366=) c.7100C= (p.Ala2367=) n.5363C= c.8321C= (p.Ala2774=) c.7700C= (p.Ala2567=) c.8420C= (p.Ala2807=) c.8918C= (p.Ala2973=) c.6515C= (p.Ala2172=) | |
2 | g.237336179G>T | CA351191021 | COL6A3 | c.1566C>A c.8303C>A (p.Ala2768Glu) c.1048C>A n.1188C>A c.8921C>A (p.Ala2974Glu) c.7097C>A (p.Ala2366Glu) c.7100C>A (p.Ala2367Glu) n.5363C>A c.8321C>A (p.Ala2774Glu) c.7700C>A (p.Ala2567Glu) c.8420C>A (p.Ala2807Glu) c.8918C>A (p.Ala2973Glu) c.6515C>A (p.Ala2172Glu) | gnomAD v4 |
2 | g.237336180C>A | CA351191026 | COL6A3 | c.1565G>T c.8302G>T (p.Ala2768Ser) c.1047G>T n.1187G>T c.8920G>T (p.Ala2974Ser) c.7096G>T (p.Ala2366Ser) c.7099G>T (p.Ala2367Ser) n.5362G>T c.8320G>T (p.Ala2774Ser) c.7699G>T (p.Ala2567Ser) c.8419G>T (p.Ala2807Ser) c.8917G>T (p.Ala2973Ser) c.6514G>T (p.Ala2172Ser) | |
2 | g.237336180C= | CA1337607067 | COL6A3 | c.1565G= c.8302G= (p.Ala2768=) c.1047G= n.1187G= c.8920G= (p.Ala2974=) c.7096G= (p.Ala2366=) c.7099G= (p.Ala2367=) n.5362G= c.8320G= (p.Ala2774=) c.7699G= (p.Ala2567=) c.8419G= (p.Ala2807=) c.8917G= (p.Ala2973=) c.6514G= (p.Ala2172=) | |
2 | g.237336180C>G | CA351191028 | COL6A3 | c.1565G>C c.8302G>C (p.Ala2768Pro) c.1047G>C n.1187G>C c.8920G>C (p.Ala2974Pro) c.7096G>C (p.Ala2366Pro) c.7099G>C (p.Ala2367Pro) n.5362G>C c.8320G>C (p.Ala2774Pro) c.7699G>C (p.Ala2567Pro) c.8419G>C (p.Ala2807Pro) c.8917G>C (p.Ala2973Pro) c.6514G>C (p.Ala2172Pro) | |
2 | g.237336180C>T | CA295320 | COL6A3 | c.1565G>A c.8302G>A (p.Ala2768Thr) c.1047G>A n.1187G>A c.8920G>A (p.Ala2974Thr) c.7096G>A (p.Ala2366Thr) c.7099G>A (p.Ala2367Thr) n.5362G>A c.8320G>A (p.Ala2774Thr) c.7699G>A (p.Ala2567Thr) c.8419G>A (p.Ala2807Thr) c.8917G>A (p.Ala2973Thr) c.6514G>A (p.Ala2172Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336181C>A | CA351191030 | COL6A3 | c.1564G>T c.8301G>T (p.Gln2767His) c.1046G>T n.1186G>T c.8919G>T (p.Gln2973His) c.7095G>T (p.Gln2365His) c.7098G>T (p.Gln2366His) n.5361G>T c.8319G>T (p.Gln2773His) c.7698G>T (p.Gln2566His) c.8418G>T (p.Gln2806His) c.8916G>T (p.Gln2972His) c.6513G>T (p.Gln2171His) | gnomAD v4 |
2 | g.237336181C>G | CA351191031 | COL6A3 | c.1564G>C c.8301G>C (p.Gln2767His) c.1046G>C n.1186G>C c.8919G>C (p.Gln2973His) c.7095G>C (p.Gln2365His) c.7098G>C (p.Gln2366His) n.5361G>C c.8319G>C (p.Gln2773His) c.7698G>C (p.Gln2566His) c.8418G>C (p.Gln2806His) c.8916G>C (p.Gln2972His) c.6513G>C (p.Gln2171His) | |
2 | g.237336181C>T | CA431698521 | COL6A3 | c.1564G>A c.8301G>A (p.Gln2767=) c.1046G>A n.1186G>A c.8919G>A (p.Gln2973=) c.7095G>A (p.Gln2365=) c.7098G>A (p.Gln2366=) n.5361G>A c.8319G>A (p.Gln2773=) c.7698G>A (p.Gln2566=) c.8418G>A (p.Gln2806=) c.8916G>A (p.Gln2972=) c.6513G>A (p.Gln2171=) | |
2 | g.237336182T>A | CA351191037 | COL6A3 | c.1563A>T c.8300A>T (p.Gln2767Leu) c.1045A>T n.1185A>T c.8918A>T (p.Gln2973Leu) c.7094A>T (p.Gln2365Leu) c.7097A>T (p.Gln2366Leu) n.5360A>T c.8318A>T (p.Gln2773Leu) c.7697A>T (p.Gln2566Leu) c.8417A>T (p.Gln2806Leu) c.8915A>T (p.Gln2972Leu) c.6512A>T (p.Gln2171Leu) | |
2 | g.237336182T>C | CA351191035 | COL6A3 | c.1563A>G c.8300A>G (p.Gln2767Arg) c.1045A>G n.1185A>G c.8918A>G (p.Gln2973Arg) c.7094A>G (p.Gln2365Arg) c.7097A>G (p.Gln2366Arg) n.5360A>G c.8318A>G (p.Gln2773Arg) c.7697A>G (p.Gln2566Arg) c.8417A>G (p.Gln2806Arg) c.8915A>G (p.Gln2972Arg) c.6512A>G (p.Gln2171Arg) | |
2 | g.237336182T>G | CA351191034 | COL6A3 | c.1563A>C c.8300A>C (p.Gln2767Pro) c.1045A>C n.1185A>C c.8918A>C (p.Gln2973Pro) c.7094A>C (p.Gln2365Pro) c.7097A>C (p.Gln2366Pro) n.5360A>C c.8318A>C (p.Gln2773Pro) c.7697A>C (p.Gln2566Pro) c.8417A>C (p.Gln2806Pro) c.8915A>C (p.Gln2972Pro) c.6512A>C (p.Gln2171Pro) | |
2 | g.237336183G>A | CA351191039 | COL6A3 | c.1562C>T c.8299C>T (p.Gln2767Ter) c.1044C>T n.1184C>T c.8917C>T (p.Gln2973Ter) c.7093C>T (p.Gln2365Ter) c.7096C>T (p.Gln2366Ter) n.5359C>T c.8317C>T (p.Gln2773Ter) c.7696C>T (p.Gln2566Ter) c.8416C>T (p.Gln2806Ter) c.8914C>T (p.Gln2972Ter) c.6511C>T (p.Gln2171Ter) | |
2 | g.237336183G>C | CA351191041 | COL6A3 | c.1562C>G c.8299C>G (p.Gln2767Glu) c.1044C>G n.1184C>G c.8917C>G (p.Gln2973Glu) c.7093C>G (p.Gln2365Glu) c.7096C>G (p.Gln2366Glu) n.5359C>G c.8317C>G (p.Gln2773Glu) c.7696C>G (p.Gln2566Glu) c.8416C>G (p.Gln2806Glu) c.8914C>G (p.Gln2972Glu) c.6511C>G (p.Gln2171Glu) | |
2 | g.237336183G>T | CA351191043 | COL6A3 | c.1562C>A c.8299C>A (p.Gln2767Lys) c.1044C>A n.1184C>A c.8917C>A (p.Gln2973Lys) c.7093C>A (p.Gln2365Lys) c.7096C>A (p.Gln2366Lys) n.5359C>A c.8317C>A (p.Gln2773Lys) c.7696C>A (p.Gln2566Lys) c.8416C>A (p.Gln2806Lys) c.8914C>A (p.Gln2972Lys) c.6511C>A (p.Gln2171Lys) | |
2 | g.237336184T>A | CA431698535 | COL6A3 | c.1561A>T c.8298A>T (p.Pro2766=) c.1043A>T n.1183A>T c.8916A>T (p.Pro2972=) c.7092A>T (p.Pro2364=) c.7095A>T (p.Pro2365=) n.5358A>T c.8316A>T (p.Pro2772=) c.7695A>T (p.Pro2565=) c.8415A>T (p.Pro2805=) c.8913A>T (p.Pro2971=) c.6510A>T (p.Pro2170=) | |
2 | g.237336184T>C | CA67830365 | COL6A3 | c.1561A>G c.8298A>G (p.Pro2766=) c.1043A>G n.1183A>G c.8916A>G (p.Pro2972=) c.7092A>G (p.Pro2364=) c.7095A>G (p.Pro2365=) n.5358A>G c.8316A>G (p.Pro2772=) c.7695A>G (p.Pro2565=) c.8415A>G (p.Pro2805=) c.8913A>G (p.Pro2971=) c.6510A>G (p.Pro2170=) | dbSNP |
2 | g.237336184T>G | CA431698539 | COL6A3 | c.1561A>C c.8298A>C (p.Pro2766=) c.1043A>C n.1183A>C c.8916A>C (p.Pro2972=) c.7092A>C (p.Pro2364=) c.7095A>C (p.Pro2365=) n.5358A>C c.8316A>C (p.Pro2772=) c.7695A>C (p.Pro2565=) c.8415A>C (p.Pro2805=) c.8913A>C (p.Pro2971=) c.6510A>C (p.Pro2170=) | |
2 | g.237336184T= | CA1337607068 | COL6A3 | c.1561A= c.8298A= (p.Pro2766=) c.1043A= n.1183A= c.8916A= (p.Pro2972=) c.7092A= (p.Pro2364=) c.7095A= (p.Pro2365=) n.5358A= c.8316A= (p.Pro2772=) c.7695A= (p.Pro2565=) c.8415A= (p.Pro2805=) c.8913A= (p.Pro2971=) c.6510A= (p.Pro2170=) | |
2 | g.237336185G>A | CA351191048 | COL6A3 | c.1560C>T c.8297C>T (p.Pro2766Leu) c.1042C>T n.1182C>T c.8915C>T (p.Pro2972Leu) c.7091C>T (p.Pro2364Leu) c.7094C>T (p.Pro2365Leu) n.5357C>T c.8315C>T (p.Pro2772Leu) c.7694C>T (p.Pro2565Leu) c.8414C>T (p.Pro2805Leu) c.8912C>T (p.Pro2971Leu) c.6509C>T (p.Pro2170Leu) | |
2 | g.237336185G>C | CA351191049 | COL6A3 | c.1560C>G c.8297C>G (p.Pro2766Arg) c.1042C>G n.1182C>G c.8915C>G (p.Pro2972Arg) c.7091C>G (p.Pro2364Arg) c.7094C>G (p.Pro2365Arg) n.5357C>G c.8315C>G (p.Pro2772Arg) c.7694C>G (p.Pro2565Arg) c.8414C>G (p.Pro2805Arg) c.8912C>G (p.Pro2971Arg) c.6509C>G (p.Pro2170Arg) | |
2 | g.237336185G>T | CA351191051 | COL6A3 | c.1560C>A c.8297C>A (p.Pro2766Gln) c.1042C>A n.1182C>A c.8915C>A (p.Pro2972Gln) c.7091C>A (p.Pro2364Gln) c.7094C>A (p.Pro2365Gln) n.5357C>A c.8315C>A (p.Pro2772Gln) c.7694C>A (p.Pro2565Gln) c.8414C>A (p.Pro2805Gln) c.8912C>A (p.Pro2971Gln) c.6509C>A (p.Pro2170Gln) | |
2 | g.237336186G>A | CA351191054 | COL6A3 | c.1559C>T c.8296C>T (p.Pro2766Ser) c.1041C>T n.1181C>T c.8914C>T (p.Pro2972Ser) c.7090C>T (p.Pro2364Ser) c.7093C>T (p.Pro2365Ser) n.5356C>T c.8314C>T (p.Pro2772Ser) c.7693C>T (p.Pro2565Ser) c.8413C>T (p.Pro2805Ser) c.8911C>T (p.Pro2971Ser) c.6508C>T (p.Pro2170Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.237336186G>C | CA351191057 | COL6A3 | c.1559C>G c.8296C>G (p.Pro2766Ala) c.1041C>G n.1181C>G c.8914C>G (p.Pro2972Ala) c.7090C>G (p.Pro2364Ala) c.7093C>G (p.Pro2365Ala) n.5356C>G c.8314C>G (p.Pro2772Ala) c.7693C>G (p.Pro2565Ala) c.8413C>G (p.Pro2805Ala) c.8911C>G (p.Pro2971Ala) c.6508C>G (p.Pro2170Ala) | |
2 | g.237336186G= | CA1337607069 | COL6A3 | c.1559C= c.8296C= (p.Pro2766=) c.1041C= n.1181C= c.8914C= (p.Pro2972=) c.7090C= (p.Pro2364=) c.7093C= (p.Pro2365=) n.5356C= c.8314C= (p.Pro2772=) c.7693C= (p.Pro2565=) c.8413C= (p.Pro2805=) c.8911C= (p.Pro2971=) c.6508C= (p.Pro2170=) | |
2 | g.237336186G>T | CA351191055 | COL6A3 | c.1559C>A c.8296C>A (p.Pro2766Thr) c.1041C>A n.1181C>A c.8914C>A (p.Pro2972Thr) c.7090C>A (p.Pro2364Thr) c.7093C>A (p.Pro2365Thr) n.5356C>A c.8314C>A (p.Pro2772Thr) c.7693C>A (p.Pro2565Thr) c.8413C>A (p.Pro2805Thr) c.8911C>A (p.Pro2971Thr) c.6508C>A (p.Pro2170Thr) | |
2 | g.237336187C>A | CA351191059 | COL6A3 | c.1558G>T c.8295G>T (p.Arg2765Ser) c.1040G>T n.1180G>T c.8913G>T (p.Arg2971Ser) c.7089G>T (p.Arg2363Ser) c.7092G>T (p.Arg2364Ser) n.5355G>T c.8313G>T (p.Arg2771Ser) c.7692G>T (p.Arg2564Ser) c.8412G>T (p.Arg2804Ser) c.8910G>T (p.Arg2970Ser) c.6507G>T (p.Arg2169Ser) | |
2 | g.237336187C>G | CA351191061 | COL6A3 | c.1558G>C c.8295G>C (p.Arg2765Ser) c.1040G>C n.1180G>C c.8913G>C (p.Arg2971Ser) c.7089G>C (p.Arg2363Ser) c.7092G>C (p.Arg2364Ser) n.5355G>C c.8313G>C (p.Arg2771Ser) c.7692G>C (p.Arg2564Ser) c.8412G>C (p.Arg2804Ser) c.8910G>C (p.Arg2970Ser) c.6507G>C (p.Arg2169Ser) | |
2 | g.237336187C>T | CA431698557 | COL6A3 | c.1558G>A c.8295G>A (p.Arg2765=) c.1040G>A n.1180G>A c.8913G>A (p.Arg2971=) c.7089G>A (p.Arg2363=) c.7092G>A (p.Arg2364=) n.5355G>A c.8313G>A (p.Arg2771=) c.7692G>A (p.Arg2564=) c.8412G>A (p.Arg2804=) c.8910G>A (p.Arg2970=) c.6507G>A (p.Arg2169=) | |
2 | g.237336188C>A | CA351191063 | COL6A3 | c.1557G>T c.8294G>T (p.Arg2765Met) c.1039G>T n.1179G>T c.8912G>T (p.Arg2971Met) c.7088G>T (p.Arg2363Met) c.7091G>T (p.Arg2364Met) n.5354G>T c.8312G>T (p.Arg2771Met) c.7691G>T (p.Arg2564Met) c.8411G>T (p.Arg2804Met) c.8909G>T (p.Arg2970Met) c.6506G>T (p.Arg2169Met) | |
2 | g.237336188C= | CA1337607070 | COL6A3 | c.1557G= c.8294G= (p.Arg2765=) c.1039G= n.1179G= c.8912G= (p.Arg2971=) c.7088G= (p.Arg2363=) c.7091G= (p.Arg2364=) n.5354G= c.8312G= (p.Arg2771=) c.7691G= (p.Arg2564=) c.8411G= (p.Arg2804=) c.8909G= (p.Arg2970=) c.6506G= (p.Arg2169=) | |
2 | g.237336188C>G | CA351191064 | COL6A3 | c.1557G>C c.8294G>C (p.Arg2765Thr) c.1039G>C n.1179G>C c.8912G>C (p.Arg2971Thr) c.7088G>C (p.Arg2363Thr) c.7091G>C (p.Arg2364Thr) n.5354G>C c.8312G>C (p.Arg2771Thr) c.7691G>C (p.Arg2564Thr) c.8411G>C (p.Arg2804Thr) c.8909G>C (p.Arg2970Thr) c.6506G>C (p.Arg2169Thr) | gnomAD v4 |
2 | g.237336188C>T | CA2187413 | COL6A3 | c.1557G>A c.8294G>A (p.Arg2765Lys) c.1039G>A n.1179G>A c.8912G>A (p.Arg2971Lys) c.7088G>A (p.Arg2363Lys) c.7091G>A (p.Arg2364Lys) n.5354G>A c.8312G>A (p.Arg2771Lys) c.7691G>A (p.Arg2564Lys) c.8411G>A (p.Arg2804Lys) c.8909G>A (p.Arg2970Lys) c.6506G>A (p.Arg2169Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237336189T>A | CA351191067 | COL6A3 | c.1556A>T c.8293A>T (p.Arg2765Trp) c.1038A>T n.1178A>T c.8911A>T (p.Arg2971Trp) c.7087A>T (p.Arg2363Trp) c.7090A>T (p.Arg2364Trp) n.5353A>T c.8311A>T (p.Arg2771Trp) c.7690A>T (p.Arg2564Trp) c.8410A>T (p.Arg2804Trp) c.8908A>T (p.Arg2970Trp) c.6505A>T (p.Arg2169Trp) | |
2 | g.237336189T>C | CA351191068 | COL6A3 | c.1556A>G c.8293A>G (p.Arg2765Gly) c.1038A>G n.1178A>G c.8911A>G (p.Arg2971Gly) c.7087A>G (p.Arg2363Gly) c.7090A>G (p.Arg2364Gly) n.5353A>G c.8311A>G (p.Arg2771Gly) c.7690A>G (p.Arg2564Gly) c.8410A>G (p.Arg2804Gly) c.8908A>G (p.Arg2970Gly) c.6505A>G (p.Arg2169Gly) | |
2 | g.237336189T>G | CA431698570 | COL6A3 | c.1556A>C c.8293A>C (p.Arg2765=) c.1038A>C n.1178A>C c.8911A>C (p.Arg2971=) c.7087A>C (p.Arg2363=) c.7090A>C (p.Arg2364=) n.5353A>C c.8311A>C (p.Arg2771=) c.7690A>C (p.Arg2564=) c.8410A>C (p.Arg2804=) c.8908A>C (p.Arg2970=) c.6505A>C (p.Arg2169=) | |
2 | g.237336190A>C | CA431698581 | COL6A3 | c.1555T>G c.8292T>G (p.Pro2764=) c.1037T>G n.1177T>G c.8910T>G (p.Pro2970=) c.7086T>G (p.Pro2362=) c.7089T>G (p.Pro2363=) n.5352T>G c.8310T>G (p.Pro2770=) c.7689T>G (p.Pro2563=) c.8409T>G (p.Pro2803=) c.8907T>G (p.Pro2969=) c.6504T>G (p.Pro2168=) | |
2 | g.237336190A>G | CA431698583 | COL6A3 | c.1555T>C c.8292T>C (p.Pro2764=) c.1037T>C n.1177T>C c.8910T>C (p.Pro2970=) c.7086T>C (p.Pro2362=) c.7089T>C (p.Pro2363=) n.5352T>C c.8310T>C (p.Pro2770=) c.7689T>C (p.Pro2563=) c.8409T>C (p.Pro2803=) c.8907T>C (p.Pro2969=) c.6504T>C (p.Pro2168=) | |
2 | g.237336190A>T | CA431698582 | COL6A3 | c.1555T>A c.8292T>A (p.Pro2764=) c.1037T>A n.1177T>A c.8910T>A (p.Pro2970=) c.7086T>A (p.Pro2362=) c.7089T>A (p.Pro2363=) n.5352T>A c.8310T>A (p.Pro2770=) c.7689T>A (p.Pro2563=) c.8409T>A (p.Pro2803=) c.8907T>A (p.Pro2969=) c.6504T>A (p.Pro2168=) | |
2 | g.237336191G>A | CA351191071 | COL6A3 | c.1554C>T c.8291C>T (p.Pro2764Leu) c.1036C>T n.1176C>T c.8909C>T (p.Pro2970Leu) c.7085C>T (p.Pro2362Leu) c.7088C>T (p.Pro2363Leu) n.5351C>T c.8309C>T (p.Pro2770Leu) c.7688C>T (p.Pro2563Leu) c.8408C>T (p.Pro2803Leu) c.8906C>T (p.Pro2969Leu) c.6503C>T (p.Pro2168Leu) | |
2 | g.237336191G>C | CA351191072 | COL6A3 | c.1554C>G c.8291C>G (p.Pro2764Arg) c.1036C>G n.1176C>G c.8909C>G (p.Pro2970Arg) c.7085C>G (p.Pro2362Arg) c.7088C>G (p.Pro2363Arg) n.5351C>G c.8309C>G (p.Pro2770Arg) c.7688C>G (p.Pro2563Arg) c.8408C>G (p.Pro2803Arg) c.8906C>G (p.Pro2969Arg) c.6503C>G (p.Pro2168Arg) | |
2 | g.237336191G>T | CA351191074 | COL6A3 | c.1554C>A c.8291C>A (p.Pro2764His) c.1036C>A n.1176C>A c.8909C>A (p.Pro2970His) c.7085C>A (p.Pro2362His) c.7088C>A (p.Pro2363His) n.5351C>A c.8309C>A (p.Pro2770His) c.7688C>A (p.Pro2563His) c.8408C>A (p.Pro2803His) c.8906C>A (p.Pro2969His) c.6503C>A (p.Pro2168His) | |
2 | g.237336192G>A | CA351191079 | COL6A3 | c.1553C>T c.8290C>T (p.Pro2764Ser) c.1035C>T n.1175C>T c.8908C>T (p.Pro2970Ser) c.7084C>T (p.Pro2362Ser) c.7087C>T (p.Pro2363Ser) n.5350C>T c.8308C>T (p.Pro2770Ser) c.7687C>T (p.Pro2563Ser) c.8407C>T (p.Pro2803Ser) c.8905C>T (p.Pro2969Ser) c.6502C>T (p.Pro2168Ser) | |
2 | g.237336192G>C | CA351191078 | COL6A3 | c.1553C>G c.8290C>G (p.Pro2764Ala) c.1035C>G n.1175C>G c.8908C>G (p.Pro2970Ala) c.7084C>G (p.Pro2362Ala) c.7087C>G (p.Pro2363Ala) n.5350C>G c.8308C>G (p.Pro2770Ala) c.7687C>G (p.Pro2563Ala) c.8407C>G (p.Pro2803Ala) c.8905C>G (p.Pro2969Ala) c.6502C>G (p.Pro2168Ala) | |
2 | g.237336192G>T | CA351191076 | COL6A3 | c.1553C>A c.8290C>A (p.Pro2764Thr) c.1035C>A n.1175C>A c.8908C>A (p.Pro2970Thr) c.7084C>A (p.Pro2362Thr) c.7087C>A (p.Pro2363Thr) n.5350C>A c.8308C>A (p.Pro2770Thr) c.7687C>A (p.Pro2563Thr) c.8407C>A (p.Pro2803Thr) c.8905C>A (p.Pro2969Thr) c.6502C>A (p.Pro2168Thr) | |
2 | g.237336193G>A | CA2187414 | COL6A3 | c.1552C>T c.8289C>T (p.Val2763=) c.1034C>T n.1174C>T c.8907C>T (p.Val2969=) c.7083C>T (p.Val2361=) c.7086C>T (p.Val2362=) n.5349C>T c.8307C>T (p.Val2769=) c.7686C>T (p.Val2562=) c.8406C>T (p.Val2802=) c.8904C>T (p.Val2968=) c.6501C>T (p.Val2167=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336193G>C | CA431698585 | COL6A3 | c.1552C>G c.8289C>G (p.Val2763=) c.1034C>G n.1174C>G c.8907C>G (p.Val2969=) c.7083C>G (p.Val2361=) c.7086C>G (p.Val2362=) n.5349C>G c.8307C>G (p.Val2769=) c.7686C>G (p.Val2562=) c.8406C>G (p.Val2802=) c.8904C>G (p.Val2968=) c.6501C>G (p.Val2167=) | gnomAD v4 |
2 | g.237336193G= | CA1337607071 | COL6A3 | c.1552C= c.8289C= (p.Val2763=) c.1034C= n.1174C= c.8907C= (p.Val2969=) c.7083C= (p.Val2361=) c.7086C= (p.Val2362=) n.5349C= c.8307C= (p.Val2769=) c.7686C= (p.Val2562=) c.8406C= (p.Val2802=) c.8904C= (p.Val2968=) c.6501C= (p.Val2167=) | |
2 | g.237336193G>T | CA431698587 | COL6A3 | c.1552C>A c.8289C>A (p.Val2763=) c.1034C>A n.1174C>A c.8907C>A (p.Val2969=) c.7083C>A (p.Val2361=) c.7086C>A (p.Val2362=) n.5349C>A c.8307C>A (p.Val2769=) c.7686C>A (p.Val2562=) c.8406C>A (p.Val2802=) c.8904C>A (p.Val2968=) c.6501C>A (p.Val2167=) | |
2 | g.237336193_237336197dup | CA2754786721 | COL6A3 | c.1548_1552dup c.8285_8289dup (p.Pro2764ArgfsTer?) c.1030_1034dup n.1170_1174dup c.8903_8907dup (p.Pro2970ArgfsTer?) c.7079_7083dup (p.Pro2362ArgfsTer?) c.7082_7086dup (p.Pro2363ArgfsTer?) n.5345_5349dup c.8303_8307dup (p.Pro2770ArgfsTer?) c.7682_7686dup (p.Pro2563ArgfsTer?) c.8402_8406dup (p.Pro2803ArgfsTer?) c.8900_8904dup (p.Pro2969ArgfsTer?) c.6497_6501dup (p.Pro2168ArgfsTer?) | |
2 | g.237336194A>C | CA351191083 | COL6A3 | c.1551T>G c.8288T>G (p.Val2763Gly) c.1033T>G n.1173T>G c.8906T>G (p.Val2969Gly) c.7082T>G (p.Val2361Gly) c.7085T>G (p.Val2362Gly) n.5348T>G c.8306T>G (p.Val2769Gly) c.7685T>G (p.Val2562Gly) c.8405T>G (p.Val2802Gly) c.8903T>G (p.Val2968Gly) c.6500T>G (p.Val2167Gly) | |
2 | g.237336194A>G | CA351191085 | COL6A3 | c.1551T>C c.8288T>C (p.Val2763Ala) c.1033T>C n.1173T>C c.8906T>C (p.Val2969Ala) c.7082T>C (p.Val2361Ala) c.7085T>C (p.Val2362Ala) n.5348T>C c.8306T>C (p.Val2769Ala) c.7685T>C (p.Val2562Ala) c.8405T>C (p.Val2802Ala) c.8903T>C (p.Val2968Ala) c.6500T>C (p.Val2167Ala) | |
2 | g.237336194A>T | CA351191086 | COL6A3 | c.1551T>A c.8288T>A (p.Val2763Asp) c.1033T>A n.1173T>A c.8906T>A (p.Val2969Asp) c.7082T>A (p.Val2361Asp) c.7085T>A (p.Val2362Asp) n.5348T>A c.8306T>A (p.Val2769Asp) c.7685T>A (p.Val2562Asp) c.8405T>A (p.Val2802Asp) c.8903T>A (p.Val2968Asp) c.6500T>A (p.Val2167Asp) | |
2 | g.237336195C>A | CA351191088 | COL6A3 | c.1550G>T c.8287G>T (p.Val2763Phe) c.1032G>T n.1172G>T c.8905G>T (p.Val2969Phe) c.7081G>T (p.Val2361Phe) c.7084G>T (p.Val2362Phe) n.5347G>T c.8305G>T (p.Val2769Phe) c.7684G>T (p.Val2562Phe) c.8404G>T (p.Val2802Phe) c.8902G>T (p.Val2968Phe) c.6499G>T (p.Val2167Phe) | |
2 | g.237336195C>G | CA351191090 | COL6A3 | c.1550G>C c.8287G>C (p.Val2763Leu) c.1032G>C n.1172G>C c.8905G>C (p.Val2969Leu) c.7081G>C (p.Val2361Leu) c.7084G>C (p.Val2362Leu) n.5347G>C c.8305G>C (p.Val2769Leu) c.7684G>C (p.Val2562Leu) c.8404G>C (p.Val2802Leu) c.8902G>C (p.Val2968Leu) c.6499G>C (p.Val2167Leu) | |
2 | g.237336195C>T | CA351191091 | COL6A3 | c.1550G>A c.8287G>A (p.Val2763Ile) c.1032G>A n.1172G>A c.8905G>A (p.Val2969Ile) c.7081G>A (p.Val2361Ile) c.7084G>A (p.Val2362Ile) n.5347G>A c.8305G>A (p.Val2769Ile) c.7684G>A (p.Val2562Ile) c.8404G>A (p.Val2802Ile) c.8902G>A (p.Val2968Ile) c.6499G>A (p.Val2167Ile) | |
2 | g.237336196C>A | CA351191095 | COL6A3 | c.1549G>T c.8286G>T (p.Glu2762Asp) c.1031G>T n.1171G>T c.8904G>T (p.Glu2968Asp) c.7080G>T (p.Glu2360Asp) c.7083G>T (p.Glu2361Asp) n.5346G>T c.8304G>T (p.Glu2768Asp) c.7683G>T (p.Glu2561Asp) c.8403G>T (p.Glu2801Asp) c.8901G>T (p.Glu2967Asp) c.6498G>T (p.Glu2166Asp) | COSMIC |
2 | g.237336196C>G | CA351191093 | COL6A3 | c.1549G>C c.8286G>C (p.Glu2762Asp) c.1031G>C n.1171G>C c.8904G>C (p.Glu2968Asp) c.7080G>C (p.Glu2360Asp) c.7083G>C (p.Glu2361Asp) n.5346G>C c.8304G>C (p.Glu2768Asp) c.7683G>C (p.Glu2561Asp) c.8403G>C (p.Glu2801Asp) c.8901G>C (p.Glu2967Asp) c.6498G>C (p.Glu2166Asp) | |
2 | g.237336196C>T | CA431700595 | COL6A3 | c.1549G>A c.8286G>A (p.Glu2762=) c.1031G>A n.1171G>A c.8904G>A (p.Glu2968=) c.7080G>A (p.Glu2360=) c.7083G>A (p.Glu2361=) n.5346G>A c.8304G>A (p.Glu2768=) c.7683G>A (p.Glu2561=) c.8403G>A (p.Glu2801=) c.8901G>A (p.Glu2967=) c.6498G>A (p.Glu2166=) | |
2 | g.237336197T>A | CA351191097 | COL6A3 | c.1548A>T c.8285A>T (p.Glu2762Val) c.1030A>T n.1170A>T c.8903A>T (p.Glu2968Val) c.7079A>T (p.Glu2360Val) c.7082A>T (p.Glu2361Val) n.5345A>T c.8303A>T (p.Glu2768Val) c.7682A>T (p.Glu2561Val) c.8402A>T (p.Glu2801Val) c.8900A>T (p.Glu2967Val) c.6497A>T (p.Glu2166Val) | |
2 | g.237336197T>C | CA351191099 | COL6A3 | c.1548A>G c.8285A>G (p.Glu2762Gly) c.1030A>G n.1170A>G c.8903A>G (p.Glu2968Gly) c.7079A>G (p.Glu2360Gly) c.7082A>G (p.Glu2361Gly) n.5345A>G c.8303A>G (p.Glu2768Gly) c.7682A>G (p.Glu2561Gly) c.8402A>G (p.Glu2801Gly) c.8900A>G (p.Glu2967Gly) c.6497A>G (p.Glu2166Gly) | |
2 | g.237336197T>G | CA2187415 | COL6A3 | c.1548A>C c.8285A>C (p.Glu2762Ala) c.1030A>C n.1170A>C c.8903A>C (p.Glu2968Ala) c.7079A>C (p.Glu2360Ala) c.7082A>C (p.Glu2361Ala) n.5345A>C c.8303A>C (p.Glu2768Ala) c.7682A>C (p.Glu2561Ala) c.8402A>C (p.Glu2801Ala) c.8900A>C (p.Glu2967Ala) c.6497A>C (p.Glu2166Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336197T= | CA1337607072 | COL6A3 | c.1548A= c.8285A= (p.Glu2762=) c.1030A= n.1170A= c.8903A= (p.Glu2968=) c.7079A= (p.Glu2360=) c.7082A= (p.Glu2361=) n.5345A= c.8303A= (p.Glu2768=) c.7682A= (p.Glu2561=) c.8402A= (p.Glu2801=) c.8900A= (p.Glu2967=) c.6497A= (p.Glu2166=) | |
2 | g.237336198C>A | CA351191103 | COL6A3 | c.1547G>T c.8284G>T (p.Glu2762Ter) c.1029G>T n.1169G>T c.8902G>T (p.Glu2968Ter) c.7078G>T (p.Glu2360Ter) c.7081G>T (p.Glu2361Ter) n.5344G>T c.8302G>T (p.Glu2768Ter) c.7681G>T (p.Glu2561Ter) c.8401G>T (p.Glu2801Ter) c.8899G>T (p.Glu2967Ter) c.6496G>T (p.Glu2166Ter) | |
2 | g.237336198C>G | CA351191105 | COL6A3 | c.1547G>C c.8284G>C (p.Glu2762Gln) c.1029G>C n.1169G>C c.8902G>C (p.Glu2968Gln) c.7078G>C (p.Glu2360Gln) c.7081G>C (p.Glu2361Gln) n.5344G>C c.8302G>C (p.Glu2768Gln) c.7681G>C (p.Glu2561Gln) c.8401G>C (p.Glu2801Gln) c.8899G>C (p.Glu2967Gln) c.6496G>C (p.Glu2166Gln) | |
2 | g.237336198C>T | CA351191106 | COL6A3 | c.1547G>A c.8284G>A (p.Glu2762Lys) c.1029G>A n.1169G>A c.8902G>A (p.Glu2968Lys) c.7078G>A (p.Glu2360Lys) c.7081G>A (p.Glu2361Lys) n.5344G>A c.8302G>A (p.Glu2768Lys) c.7681G>A (p.Glu2561Lys) c.8401G>A (p.Glu2801Lys) c.8899G>A (p.Glu2967Lys) c.6496G>A (p.Glu2166Lys) | |
2 | g.237336199A>C | CA431700613 | COL6A3 | c.1546T>G c.8283T>G (p.Pro2761=) c.1028T>G n.1168T>G c.8901T>G (p.Pro2967=) c.7077T>G (p.Pro2359=) c.7080T>G (p.Pro2360=) n.5343T>G c.8301T>G (p.Pro2767=) c.7680T>G (p.Pro2560=) c.8400T>G (p.Pro2800=) c.8898T>G (p.Pro2966=) c.6495T>G (p.Pro2165=) | |
2 | g.237336199A>G | CA431700615 | COL6A3 | c.1546T>C c.8283T>C (p.Pro2761=) c.1028T>C n.1168T>C c.8901T>C (p.Pro2967=) c.7077T>C (p.Pro2359=) c.7080T>C (p.Pro2360=) n.5343T>C c.8301T>C (p.Pro2767=) c.7680T>C (p.Pro2560=) c.8400T>C (p.Pro2800=) c.8898T>C (p.Pro2966=) c.6495T>C (p.Pro2165=) | |
2 | g.237336199A>T | CA431700619 | COL6A3 | c.1546T>A c.8283T>A (p.Pro2761=) c.1028T>A n.1168T>A c.8901T>A (p.Pro2967=) c.7077T>A (p.Pro2359=) c.7080T>A (p.Pro2360=) n.5343T>A c.8301T>A (p.Pro2767=) c.7680T>A (p.Pro2560=) c.8400T>A (p.Pro2800=) c.8898T>A (p.Pro2966=) c.6495T>A (p.Pro2165=) | |
2 | g.237336200G>A | CA351191109 | COL6A3 | c.1545C>T c.8282C>T (p.Pro2761Leu) c.1027C>T n.1167C>T c.8900C>T (p.Pro2967Leu) c.7076C>T (p.Pro2359Leu) c.7079C>T (p.Pro2360Leu) n.5342C>T c.8300C>T (p.Pro2767Leu) c.7679C>T (p.Pro2560Leu) c.8399C>T (p.Pro2800Leu) c.8897C>T (p.Pro2966Leu) c.6494C>T (p.Pro2165Leu) | |
2 | g.237336200G>C | CA351191111 | COL6A3 | c.1545C>G c.8282C>G (p.Pro2761Arg) c.1027C>G n.1167C>G c.8900C>G (p.Pro2967Arg) c.7076C>G (p.Pro2359Arg) c.7079C>G (p.Pro2360Arg) n.5342C>G c.8300C>G (p.Pro2767Arg) c.7679C>G (p.Pro2560Arg) c.8399C>G (p.Pro2800Arg) c.8897C>G (p.Pro2966Arg) c.6494C>G (p.Pro2165Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336200G= | CA1337607073 | COL6A3 | c.1545C= c.8282C= (p.Pro2761=) c.1027C= n.1167C= c.8900C= (p.Pro2967=) c.7076C= (p.Pro2359=) c.7079C= (p.Pro2360=) n.5342C= c.8300C= (p.Pro2767=) c.7679C= (p.Pro2560=) c.8399C= (p.Pro2800=) c.8897C= (p.Pro2966=) c.6494C= (p.Pro2165=) | |
2 | g.237336200G>T | CA351191110 | COL6A3 | c.1545C>A c.8282C>A (p.Pro2761His) c.1027C>A n.1167C>A c.8900C>A (p.Pro2967His) c.7076C>A (p.Pro2359His) c.7079C>A (p.Pro2360His) n.5342C>A c.8300C>A (p.Pro2767His) c.7679C>A (p.Pro2560His) c.8399C>A (p.Pro2800His) c.8897C>A (p.Pro2966His) c.6494C>A (p.Pro2165His) | |
2 | g.237336201G>A | CA351191113 | COL6A3 | c.1544C>T c.8281C>T (p.Pro2761Ser) c.1026C>T n.1166C>T c.8899C>T (p.Pro2967Ser) c.7075C>T (p.Pro2359Ser) c.7078C>T (p.Pro2360Ser) n.5341C>T c.8299C>T (p.Pro2767Ser) c.7678C>T (p.Pro2560Ser) c.8398C>T (p.Pro2800Ser) c.8896C>T (p.Pro2966Ser) c.6493C>T (p.Pro2165Ser) | |
2 | g.237336201G>C | CA351191114 | COL6A3 | c.1544C>G c.8281C>G (p.Pro2761Ala) c.1026C>G n.1166C>G c.8899C>G (p.Pro2967Ala) c.7075C>G (p.Pro2359Ala) c.7078C>G (p.Pro2360Ala) n.5341C>G c.8299C>G (p.Pro2767Ala) c.7678C>G (p.Pro2560Ala) c.8398C>G (p.Pro2800Ala) c.8896C>G (p.Pro2966Ala) c.6493C>G (p.Pro2165Ala) | |
2 | g.237336201G= | CA1337607074 | COL6A3 | c.1544C= c.8281C= (p.Pro2761=) c.1026C= n.1166C= c.8899C= (p.Pro2967=) c.7075C= (p.Pro2359=) c.7078C= (p.Pro2360=) n.5341C= c.8299C= (p.Pro2767=) c.7678C= (p.Pro2560=) c.8398C= (p.Pro2800=) c.8896C= (p.Pro2966=) c.6493C= (p.Pro2165=) | |
2 | g.237336201G>T | CA351191116 | COL6A3 | c.1544C>A c.8281C>A (p.Pro2761Thr) c.1026C>A n.1166C>A c.8899C>A (p.Pro2967Thr) c.7075C>A (p.Pro2359Thr) c.7078C>A (p.Pro2360Thr) n.5341C>A c.8299C>A (p.Pro2767Thr) c.7678C>A (p.Pro2560Thr) c.8398C>A (p.Pro2800Thr) c.8896C>A (p.Pro2966Thr) c.6493C>A (p.Pro2165Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237336202C>A | CA351191118 | COL6A3 | c.1543G>T c.8280G>T (p.Lys2760Asn) c.1025G>T n.1165G>T c.8898G>T (p.Lys2966Asn) c.7074G>T (p.Lys2358Asn) c.7077G>T (p.Lys2359Asn) n.5340G>T c.8298G>T (p.Lys2766Asn) c.7677G>T (p.Lys2559Asn) c.8397G>T (p.Lys2799Asn) c.8895G>T (p.Lys2965Asn) c.6492G>T (p.Lys2164Asn) | |
2 | g.237336202C= | CA1337607075 | COL6A3 | c.1543G= c.8280G= (p.Lys2760=) c.1025G= n.1165G= c.8898G= (p.Lys2966=) c.7074G= (p.Lys2358=) c.7077G= (p.Lys2359=) n.5340G= c.8298G= (p.Lys2766=) c.7677G= (p.Lys2559=) c.8397G= (p.Lys2799=) c.8895G= (p.Lys2965=) c.6492G= (p.Lys2164=) | |
2 | g.237336202C>G | CA351191120 | COL6A3 | c.1543G>C c.8280G>C (p.Lys2760Asn) c.1025G>C n.1165G>C c.8898G>C (p.Lys2966Asn) c.7074G>C (p.Lys2358Asn) c.7077G>C (p.Lys2359Asn) n.5340G>C c.8298G>C (p.Lys2766Asn) c.7677G>C (p.Lys2559Asn) c.8397G>C (p.Lys2799Asn) c.8895G>C (p.Lys2965Asn) c.6492G>C (p.Lys2164Asn) | |
2 | g.237336202C>T | CA431700644 | COL6A3 | c.1543G>A c.8280G>A (p.Lys2760=) c.1025G>A n.1165G>A c.8898G>A (p.Lys2966=) c.7074G>A (p.Lys2358=) c.7077G>A (p.Lys2359=) n.5340G>A c.8298G>A (p.Lys2766=) c.7677G>A (p.Lys2559=) c.8397G>A (p.Lys2799=) c.8895G>A (p.Lys2965=) c.6492G>A (p.Lys2164=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336203T>A | CA351191121 | COL6A3 | c.1542A>T c.8279A>T (p.Lys2760Met) c.1024A>T n.1164A>T c.8897A>T (p.Lys2966Met) c.7073A>T (p.Lys2358Met) c.7076A>T (p.Lys2359Met) n.5339A>T c.8297A>T (p.Lys2766Met) c.7676A>T (p.Lys2559Met) c.8396A>T (p.Lys2799Met) c.8894A>T (p.Lys2965Met) c.6491A>T (p.Lys2164Met) | |
2 | g.237336203T>C | CA351191123 | COL6A3 | c.1542A>G c.8279A>G (p.Lys2760Arg) c.1024A>G n.1164A>G c.8897A>G (p.Lys2966Arg) c.7073A>G (p.Lys2358Arg) c.7076A>G (p.Lys2359Arg) n.5339A>G c.8297A>G (p.Lys2766Arg) c.7676A>G (p.Lys2559Arg) c.8396A>G (p.Lys2799Arg) c.8894A>G (p.Lys2965Arg) c.6491A>G (p.Lys2164Arg) | dbSNP |
2 | g.237336203T>G | CA351191125 | COL6A3 | c.1542A>C c.8279A>C (p.Lys2760Thr) c.1024A>C n.1164A>C c.8897A>C (p.Lys2966Thr) c.7073A>C (p.Lys2358Thr) c.7076A>C (p.Lys2359Thr) n.5339A>C c.8297A>C (p.Lys2766Thr) c.7676A>C (p.Lys2559Thr) c.8396A>C (p.Lys2799Thr) c.8894A>C (p.Lys2965Thr) c.6491A>C (p.Lys2164Thr) | |
2 | g.237336203T= | CA1337607076 | COL6A3 | c.1542A= c.8279A= (p.Lys2760=) c.1024A= n.1164A= c.8897A= (p.Lys2966=) c.7073A= (p.Lys2358=) c.7076A= (p.Lys2359=) n.5339A= c.8297A= (p.Lys2766=) c.7676A= (p.Lys2559=) c.8396A= (p.Lys2799=) c.8894A= (p.Lys2965=) c.6491A= (p.Lys2164=) | |
2 | g.237336204T>A | CA351191127 | COL6A3 | c.1541A>T c.8278A>T (p.Lys2760Ter) c.1023A>T n.1163A>T c.8896A>T (p.Lys2966Ter) c.7072A>T (p.Lys2358Ter) c.7075A>T (p.Lys2359Ter) n.5338A>T c.8296A>T (p.Lys2766Ter) c.7675A>T (p.Lys2559Ter) c.8395A>T (p.Lys2799Ter) c.8893A>T (p.Lys2965Ter) c.6490A>T (p.Lys2164Ter) | |
2 | g.237336204T>C | CA351191129 | COL6A3 | c.1541A>G c.8278A>G (p.Lys2760Glu) c.1023A>G n.1163A>G c.8896A>G (p.Lys2966Glu) c.7072A>G (p.Lys2358Glu) c.7075A>G (p.Lys2359Glu) n.5338A>G c.8296A>G (p.Lys2766Glu) c.7675A>G (p.Lys2559Glu) c.8395A>G (p.Lys2799Glu) c.8893A>G (p.Lys2965Glu) c.6490A>G (p.Lys2164Glu) | |
2 | g.237336204T>G | CA2187416 | COL6A3 | c.1541A>C c.8278A>C (p.Lys2760Gln) c.1023A>C n.1163A>C c.8896A>C (p.Lys2966Gln) c.7072A>C (p.Lys2358Gln) c.7075A>C (p.Lys2359Gln) n.5338A>C c.8296A>C (p.Lys2766Gln) c.7675A>C (p.Lys2559Gln) c.8395A>C (p.Lys2799Gln) c.8893A>C (p.Lys2965Gln) c.6490A>C (p.Lys2164Gln) | dbSNP ExAC gnomAD v2 |
2 | g.237336204T= | CA1337607077 | COL6A3 | c.1541A= c.8278A= (p.Lys2760=) c.1023A= n.1163A= c.8896A= (p.Lys2966=) c.7072A= (p.Lys2358=) c.7075A= (p.Lys2359=) n.5338A= c.8296A= (p.Lys2766=) c.7675A= (p.Lys2559=) c.8395A= (p.Lys2799=) c.8893A= (p.Lys2965=) c.6490A= (p.Lys2164=) | |
2 | g.237336205G>A | CA431700661 | COL6A3 | c.1540C>T c.8277C>T (p.Thr2759=) c.1022C>T n.1162C>T c.8895C>T (p.Thr2965=) c.7071C>T (p.Thr2357=) c.7074C>T (p.Thr2358=) n.5337C>T c.8295C>T (p.Thr2765=) c.7674C>T (p.Thr2558=) c.8394C>T (p.Thr2798=) c.8892C>T (p.Thr2964=) c.6489C>T (p.Thr2163=) | ClinVar dbSNP gnomAD v4 |
2 | g.237336205G>C | CA431700655 | COL6A3 | c.1540C>G c.8277C>G (p.Thr2759=) c.1022C>G n.1162C>G c.8895C>G (p.Thr2965=) c.7071C>G (p.Thr2357=) c.7074C>G (p.Thr2358=) n.5337C>G c.8295C>G (p.Thr2765=) c.7674C>G (p.Thr2558=) c.8394C>G (p.Thr2798=) c.8892C>G (p.Thr2964=) c.6489C>G (p.Thr2163=) | |
2 | g.237336205G= | CA1337607078 | COL6A3 | c.1540C= c.8277C= (p.Thr2759=) c.1022C= n.1162C= c.8895C= (p.Thr2965=) c.7071C= (p.Thr2357=) c.7074C= (p.Thr2358=) n.5337C= c.8295C= (p.Thr2765=) c.7674C= (p.Thr2558=) c.8394C= (p.Thr2798=) c.8892C= (p.Thr2964=) c.6489C= (p.Thr2163=) | |
2 | g.237336205G>T | CA2187417 | COL6A3 | c.1540C>A c.8277C>A (p.Thr2759=) c.1022C>A n.1162C>A c.8895C>A (p.Thr2965=) c.7071C>A (p.Thr2357=) c.7074C>A (p.Thr2358=) n.5337C>A c.8295C>A (p.Thr2765=) c.7674C>A (p.Thr2558=) c.8394C>A (p.Thr2798=) c.8892C>A (p.Thr2964=) c.6489C>A (p.Thr2163=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336206G>A | CA351191136 | COL6A3 | c.1539C>T c.8276C>T (p.Thr2759Ile) c.1021C>T n.1161C>T c.8894C>T (p.Thr2965Ile) c.7070C>T (p.Thr2357Ile) c.7073C>T (p.Thr2358Ile) n.5336C>T c.8294C>T (p.Thr2765Ile) c.7673C>T (p.Thr2558Ile) c.8393C>T (p.Thr2798Ile) c.8891C>T (p.Thr2964Ile) c.6488C>T (p.Thr2163Ile) | |
2 | g.237336206G>C | CA351191139 | COL6A3 | c.1539C>G c.8276C>G (p.Thr2759Ser) c.1021C>G n.1161C>G c.8894C>G (p.Thr2965Ser) c.7070C>G (p.Thr2357Ser) c.7073C>G (p.Thr2358Ser) n.5336C>G c.8294C>G (p.Thr2765Ser) c.7673C>G (p.Thr2558Ser) c.8393C>G (p.Thr2798Ser) c.8891C>G (p.Thr2964Ser) c.6488C>G (p.Thr2163Ser) | gnomAD v4 |
2 | g.237336206G>T | CA351191138 | COL6A3 | c.1539C>A c.8276C>A (p.Thr2759Asn) c.1021C>A n.1161C>A c.8894C>A (p.Thr2965Asn) c.7070C>A (p.Thr2357Asn) c.7073C>A (p.Thr2358Asn) n.5336C>A c.8294C>A (p.Thr2765Asn) c.7673C>A (p.Thr2558Asn) c.8393C>A (p.Thr2798Asn) c.8891C>A (p.Thr2964Asn) c.6488C>A (p.Thr2163Asn) | |
2 | g.237336207T>A | CA351191141 | COL6A3 | c.1538A>T c.8275A>T (p.Thr2759Ser) c.1020A>T n.1160A>T c.8893A>T (p.Thr2965Ser) c.7069A>T (p.Thr2357Ser) c.7072A>T (p.Thr2358Ser) n.5335A>T c.8293A>T (p.Thr2765Ser) c.7672A>T (p.Thr2558Ser) c.8392A>T (p.Thr2798Ser) c.8890A>T (p.Thr2964Ser) c.6487A>T (p.Thr2163Ser) | |
2 | g.237336207T>C | CA351191142 | COL6A3 | c.1538A>G c.8275A>G (p.Thr2759Ala) c.1020A>G n.1160A>G c.8893A>G (p.Thr2965Ala) c.7069A>G (p.Thr2357Ala) c.7072A>G (p.Thr2358Ala) n.5335A>G c.8293A>G (p.Thr2765Ala) c.7672A>G (p.Thr2558Ala) c.8392A>G (p.Thr2798Ala) c.8890A>G (p.Thr2964Ala) c.6487A>G (p.Thr2163Ala) | |
2 | g.237336207T>G | CA351191144 | COL6A3 | c.1538A>C c.8275A>C (p.Thr2759Pro) c.1020A>C n.1160A>C c.8893A>C (p.Thr2965Pro) c.7069A>C (p.Thr2357Pro) c.7072A>C (p.Thr2358Pro) n.5335A>C c.8293A>C (p.Thr2765Pro) c.7672A>C (p.Thr2558Pro) c.8392A>C (p.Thr2798Pro) c.8890A>C (p.Thr2964Pro) c.6487A>C (p.Thr2163Pro) | |
2 | g.237336208C>A | CA431700678 | COL6A3 | c.1537G>T c.8274G>T (p.Ala2758=) c.1019G>T n.1159G>T c.8892G>T (p.Ala2964=) c.7068G>T (p.Ala2356=) c.7071G>T (p.Ala2357=) n.5334G>T c.8292G>T (p.Ala2764=) c.7671G>T (p.Ala2557=) c.8391G>T (p.Ala2797=) c.8889G>T (p.Ala2963=) c.6486G>T (p.Ala2162=) | |
2 | g.237336208C= | CA1337607079 | COL6A3 | c.1537G= c.8274G= (p.Ala2758=) c.1019G= n.1159G= c.8892G= (p.Ala2964=) c.7068G= (p.Ala2356=) c.7071G= (p.Ala2357=) n.5334G= c.8292G= (p.Ala2764=) c.7671G= (p.Ala2557=) c.8391G= (p.Ala2797=) c.8889G= (p.Ala2963=) c.6486G= (p.Ala2162=) | |
2 | g.237336208C>G | CA2187418 | COL6A3 | c.1537G>C c.8274G>C (p.Ala2758=) c.1019G>C n.1159G>C c.8892G>C (p.Ala2964=) c.7068G>C (p.Ala2356=) c.7071G>C (p.Ala2357=) n.5334G>C c.8292G>C (p.Ala2764=) c.7671G>C (p.Ala2557=) c.8391G>C (p.Ala2797=) c.8889G>C (p.Ala2963=) c.6486G>C (p.Ala2162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336208C>T | CA2187419 | COL6A3 | c.1537G>A c.8274G>A (p.Ala2758=) c.1019G>A n.1159G>A c.8892G>A (p.Ala2964=) c.7068G>A (p.Ala2356=) c.7071G>A (p.Ala2357=) n.5334G>A c.8292G>A (p.Ala2764=) c.7671G>A (p.Ala2557=) c.8391G>A (p.Ala2797=) c.8889G>A (p.Ala2963=) c.6486G>A (p.Ala2162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336209G>A | CA2187420 | COL6A3 | c.1536C>T c.8273C>T (p.Ala2758Val) c.1018C>T n.1158C>T c.8891C>T (p.Ala2964Val) c.7067C>T (p.Ala2356Val) c.7070C>T (p.Ala2357Val) n.5333C>T c.8291C>T (p.Ala2764Val) c.7670C>T (p.Ala2557Val) c.8390C>T (p.Ala2797Val) c.8888C>T (p.Ala2963Val) c.6485C>T (p.Ala2162Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336209G>C | CA351191150 | COL6A3 | c.1536C>G c.8273C>G (p.Ala2758Gly) c.1018C>G n.1158C>G c.8891C>G (p.Ala2964Gly) c.7067C>G (p.Ala2356Gly) c.7070C>G (p.Ala2357Gly) n.5333C>G c.8291C>G (p.Ala2764Gly) c.7670C>G (p.Ala2557Gly) c.8390C>G (p.Ala2797Gly) c.8888C>G (p.Ala2963Gly) c.6485C>G (p.Ala2162Gly) | |
2 | g.237336209G= | CA1337607080 | COL6A3 | c.1536C= c.8273C= (p.Ala2758=) c.1018C= n.1158C= c.8891C= (p.Ala2964=) c.7067C= (p.Ala2356=) c.7070C= (p.Ala2357=) n.5333C= c.8291C= (p.Ala2764=) c.7670C= (p.Ala2557=) c.8390C= (p.Ala2797=) c.8888C= (p.Ala2963=) c.6485C= (p.Ala2162=) | |
2 | g.237336209G>T | CA351191148 | COL6A3 | c.1536C>A c.8273C>A (p.Ala2758Glu) c.1018C>A n.1158C>A c.8891C>A (p.Ala2964Glu) c.7067C>A (p.Ala2356Glu) c.7070C>A (p.Ala2357Glu) n.5333C>A c.8291C>A (p.Ala2764Glu) c.7670C>A (p.Ala2557Glu) c.8390C>A (p.Ala2797Glu) c.8888C>A (p.Ala2963Glu) c.6485C>A (p.Ala2162Glu) | |
2 | g.237336210C>A | CA351191151 | COL6A3 | c.1535G>T c.8272G>T (p.Ala2758Ser) c.1017G>T n.1157G>T c.8890G>T (p.Ala2964Ser) c.7066G>T (p.Ala2356Ser) c.7069G>T (p.Ala2357Ser) n.5332G>T c.8290G>T (p.Ala2764Ser) c.7669G>T (p.Ala2557Ser) c.8389G>T (p.Ala2797Ser) c.8887G>T (p.Ala2963Ser) c.6484G>T (p.Ala2162Ser) | |
2 | g.237336210C>G | CA351191152 | COL6A3 | c.1535G>C c.8272G>C (p.Ala2758Pro) c.1017G>C n.1157G>C c.8890G>C (p.Ala2964Pro) c.7066G>C (p.Ala2356Pro) c.7069G>C (p.Ala2357Pro) n.5332G>C c.8290G>C (p.Ala2764Pro) c.7669G>C (p.Ala2557Pro) c.8389G>C (p.Ala2797Pro) c.8887G>C (p.Ala2963Pro) c.6484G>C (p.Ala2162Pro) | |
2 | g.237336210C>T | CA351191153 | COL6A3 | c.1535G>A c.8272G>A (p.Ala2758Thr) c.1017G>A n.1157G>A c.8890G>A (p.Ala2964Thr) c.7066G>A (p.Ala2356Thr) c.7069G>A (p.Ala2357Thr) n.5332G>A c.8290G>A (p.Ala2764Thr) c.7669G>A (p.Ala2557Thr) c.8389G>A (p.Ala2797Thr) c.8887G>A (p.Ala2963Thr) c.6484G>A (p.Ala2162Thr) | |
2 | g.237336211C>A | CA431700715 | COL6A3 | c.1534G>T c.8271G>T (p.Val2757=) c.1016G>T n.1156G>T c.8889G>T (p.Val2963=) c.7065G>T (p.Val2355=) c.7068G>T (p.Val2356=) n.5331G>T c.8289G>T (p.Val2763=) c.7668G>T (p.Val2556=) c.8388G>T (p.Val2796=) c.8886G>T (p.Val2962=) c.6483G>T (p.Val2161=) | |
2 | g.237336211C>G | CA431700723 | COL6A3 | c.1534G>C c.8271G>C (p.Val2757=) c.1016G>C n.1156G>C c.8889G>C (p.Val2963=) c.7065G>C (p.Val2355=) c.7068G>C (p.Val2356=) n.5331G>C c.8289G>C (p.Val2763=) c.7668G>C (p.Val2556=) c.8388G>C (p.Val2796=) c.8886G>C (p.Val2962=) c.6483G>C (p.Val2161=) | |
2 | g.237336211C>T | CA431700727 | COL6A3 | c.1534G>A c.8271G>A (p.Val2757=) c.1016G>A n.1156G>A c.8889G>A (p.Val2963=) c.7065G>A (p.Val2355=) c.7068G>A (p.Val2356=) n.5331G>A c.8289G>A (p.Val2763=) c.7668G>A (p.Val2556=) c.8388G>A (p.Val2796=) c.8886G>A (p.Val2962=) c.6483G>A (p.Val2161=) | |
2 | g.237336212A>C | CA351191154 | COL6A3 | c.1533T>G c.8270T>G (p.Val2757Gly) c.1015T>G n.1155T>G c.8888T>G (p.Val2963Gly) c.7064T>G (p.Val2355Gly) c.7067T>G (p.Val2356Gly) n.5330T>G c.8288T>G (p.Val2763Gly) c.7667T>G (p.Val2556Gly) c.8387T>G (p.Val2796Gly) c.8885T>G (p.Val2962Gly) c.6482T>G (p.Val2161Gly) | |
2 | g.237336212A>G | CA351191155 | COL6A3 | c.1533T>C c.8270T>C (p.Val2757Ala) c.1015T>C n.1155T>C c.8888T>C (p.Val2963Ala) c.7064T>C (p.Val2355Ala) c.7067T>C (p.Val2356Ala) n.5330T>C c.8288T>C (p.Val2763Ala) c.7667T>C (p.Val2556Ala) c.8387T>C (p.Val2796Ala) c.8885T>C (p.Val2962Ala) c.6482T>C (p.Val2161Ala) | |
2 | g.237336212A>T | CA351191156 | COL6A3 | c.1533T>A c.8270T>A (p.Val2757Glu) c.1015T>A n.1155T>A c.8888T>A (p.Val2963Glu) c.7064T>A (p.Val2355Glu) c.7067T>A (p.Val2356Glu) n.5330T>A c.8288T>A (p.Val2763Glu) c.7667T>A (p.Val2556Glu) c.8387T>A (p.Val2796Glu) c.8885T>A (p.Val2962Glu) c.6482T>A (p.Val2161Glu) | |
2 | g.237336213C>A | CA351191157 | COL6A3 | c.1532G>T c.8269G>T (p.Val2757Leu) c.1014G>T n.1154G>T c.8887G>T (p.Val2963Leu) c.7063G>T (p.Val2355Leu) c.7066G>T (p.Val2356Leu) n.5329G>T c.8287G>T (p.Val2763Leu) c.7666G>T (p.Val2556Leu) c.8386G>T (p.Val2796Leu) c.8884G>T (p.Val2962Leu) c.6481G>T (p.Val2161Leu) | |
2 | g.237336213C>G | CA351191159 | COL6A3 | c.1532G>C c.8269G>C (p.Val2757Leu) c.1014G>C n.1154G>C c.8887G>C (p.Val2963Leu) c.7063G>C (p.Val2355Leu) c.7066G>C (p.Val2356Leu) n.5329G>C c.8287G>C (p.Val2763Leu) c.7666G>C (p.Val2556Leu) c.8386G>C (p.Val2796Leu) c.8884G>C (p.Val2962Leu) c.6481G>C (p.Val2161Leu) | |
2 | g.237336213C>T | CA351191158 | COL6A3 | c.1532G>A c.8269G>A (p.Val2757Met) c.1014G>A n.1154G>A c.8887G>A (p.Val2963Met) c.7063G>A (p.Val2355Met) c.7066G>A (p.Val2356Met) n.5329G>A c.8287G>A (p.Val2763Met) c.7666G>A (p.Val2556Met) c.8386G>A (p.Val2796Met) c.8884G>A (p.Val2962Met) c.6481G>A (p.Val2161Met) | COSMIC |
2 | g.237336214T>A | CA431700742 | COL6A3 | c.1531A>T c.8268A>T (p.Pro2756=) c.1013A>T n.1153A>T c.8886A>T (p.Pro2962=) c.7062A>T (p.Pro2354=) c.7065A>T (p.Pro2355=) n.5328A>T c.8286A>T (p.Pro2762=) c.7665A>T (p.Pro2555=) c.8385A>T (p.Pro2795=) c.8883A>T (p.Pro2961=) c.6480A>T (p.Pro2160=) | |
2 | g.237336214T>C | CA431700748 | COL6A3 | c.1531A>G c.8268A>G (p.Pro2756=) c.1013A>G n.1153A>G c.8886A>G (p.Pro2962=) c.7062A>G (p.Pro2354=) c.7065A>G (p.Pro2355=) n.5328A>G c.8286A>G (p.Pro2762=) c.7665A>G (p.Pro2555=) c.8385A>G (p.Pro2795=) c.8883A>G (p.Pro2961=) c.6480A>G (p.Pro2160=) | |
2 | g.237336214T>G | CA431700744 | COL6A3 | c.1531A>C c.8268A>C (p.Pro2756=) c.1013A>C n.1153A>C c.8886A>C (p.Pro2962=) c.7062A>C (p.Pro2354=) c.7065A>C (p.Pro2355=) n.5328A>C c.8286A>C (p.Pro2762=) c.7665A>C (p.Pro2555=) c.8385A>C (p.Pro2795=) c.8883A>C (p.Pro2961=) c.6480A>C (p.Pro2160=) | |
2 | g.237336215G>A | CA351191160 | COL6A3 | c.1530C>T c.8267C>T (p.Pro2756Leu) c.1012C>T n.1152C>T c.8885C>T (p.Pro2962Leu) c.7061C>T (p.Pro2354Leu) c.7064C>T (p.Pro2355Leu) n.5327C>T c.8285C>T (p.Pro2762Leu) c.7664C>T (p.Pro2555Leu) c.8384C>T (p.Pro2795Leu) c.8882C>T (p.Pro2961Leu) c.6479C>T (p.Pro2160Leu) | |
2 | g.237336215G>C | CA351191161 | COL6A3 | c.1530C>G c.8267C>G (p.Pro2756Arg) c.1012C>G n.1152C>G c.8885C>G (p.Pro2962Arg) c.7061C>G (p.Pro2354Arg) c.7064C>G (p.Pro2355Arg) n.5327C>G c.8285C>G (p.Pro2762Arg) c.7664C>G (p.Pro2555Arg) c.8384C>G (p.Pro2795Arg) c.8882C>G (p.Pro2961Arg) c.6479C>G (p.Pro2160Arg) | |
2 | g.237336215G>T | CA351191162 | COL6A3 | c.1530C>A c.8267C>A (p.Pro2756Gln) c.1012C>A n.1152C>A c.8885C>A (p.Pro2962Gln) c.7061C>A (p.Pro2354Gln) c.7064C>A (p.Pro2355Gln) n.5327C>A c.8285C>A (p.Pro2762Gln) c.7664C>A (p.Pro2555Gln) c.8384C>A (p.Pro2795Gln) c.8882C>A (p.Pro2961Gln) c.6479C>A (p.Pro2160Gln) | |
2 | g.237336216G>A | CA351191163 | COL6A3 | c.1529C>T c.8266C>T (p.Pro2756Ser) c.1011C>T n.1151C>T c.8884C>T (p.Pro2962Ser) c.7060C>T (p.Pro2354Ser) c.7063C>T (p.Pro2355Ser) n.5326C>T c.8284C>T (p.Pro2762Ser) c.7663C>T (p.Pro2555Ser) c.8383C>T (p.Pro2795Ser) c.8881C>T (p.Pro2961Ser) c.6478C>T (p.Pro2160Ser) | |
2 | g.237336216G>C | CA351191164 | COL6A3 | c.1529C>G c.8266C>G (p.Pro2756Ala) c.1011C>G n.1151C>G c.8884C>G (p.Pro2962Ala) c.7060C>G (p.Pro2354Ala) c.7063C>G (p.Pro2355Ala) n.5326C>G c.8284C>G (p.Pro2762Ala) c.7663C>G (p.Pro2555Ala) c.8383C>G (p.Pro2795Ala) c.8881C>G (p.Pro2961Ala) c.6478C>G (p.Pro2160Ala) | |
2 | g.237336216G>T | CA351191165 | COL6A3 | c.1529C>A c.8266C>A (p.Pro2756Thr) c.1011C>A n.1151C>A c.8884C>A (p.Pro2962Thr) c.7060C>A (p.Pro2354Thr) c.7063C>A (p.Pro2355Thr) n.5326C>A c.8284C>A (p.Pro2762Thr) c.7663C>A (p.Pro2555Thr) c.8383C>A (p.Pro2795Thr) c.8881C>A (p.Pro2961Thr) c.6478C>A (p.Pro2160Thr) | |
2 | g.237336217T>A | CA351191166 | COL6A3 | c.1528A>T c.8265A>T (p.Lys2755Asn) c.1010A>T n.1150A>T c.8883A>T (p.Lys2961Asn) c.7059A>T (p.Lys2353Asn) c.7062A>T (p.Lys2354Asn) n.5325A>T c.8283A>T (p.Lys2761Asn) c.7662A>T (p.Lys2554Asn) c.8382A>T (p.Lys2794Asn) c.8880A>T (p.Lys2960Asn) c.6477A>T (p.Lys2159Asn) | |
2 | g.237336217T>C | CA431700792 | COL6A3 | c.1528A>G c.8265A>G (p.Lys2755=) c.1010A>G n.1150A>G c.8883A>G (p.Lys2961=) c.7059A>G (p.Lys2353=) c.7062A>G (p.Lys2354=) n.5325A>G c.8283A>G (p.Lys2761=) c.7662A>G (p.Lys2554=) c.8382A>G (p.Lys2794=) c.8880A>G (p.Lys2960=) c.6477A>G (p.Lys2159=) | |
2 | g.237336217T>G | CA351191167 | COL6A3 | c.1528A>C c.8265A>C (p.Lys2755Asn) c.1010A>C n.1150A>C c.8883A>C (p.Lys2961Asn) c.7059A>C (p.Lys2353Asn) c.7062A>C (p.Lys2354Asn) n.5325A>C c.8283A>C (p.Lys2761Asn) c.7662A>C (p.Lys2554Asn) c.8382A>C (p.Lys2794Asn) c.8880A>C (p.Lys2960Asn) c.6477A>C (p.Lys2159Asn) | |
2 | g.237336220del | CA2580066106 | COL6A3 | c.1528del c.8265del (p.Lys2755AsnfsTer?) c.1010del n.1150del c.8883del (p.Lys2961AsnfsTer?) c.7059del (p.Lys2353AsnfsTer?) c.7062del (p.Lys2354AsnfsTer?) n.5325del c.8283del (p.Lys2761AsnfsTer?) c.7662del (p.Lys2554AsnfsTer?) c.8382del (p.Lys2794AsnfsTer?) c.8880del (p.Lys2960AsnfsTer?) c.6477del (p.Lys2159AsnfsTer?) | ClinVar |
2 | g.237336218T>A | CA351191168 | COL6A3 | c.1527A>T c.8264A>T (p.Lys2755Ile) c.1009A>T n.1149A>T c.8882A>T (p.Lys2961Ile) c.7058A>T (p.Lys2353Ile) c.7061A>T (p.Lys2354Ile) n.5324A>T c.8282A>T (p.Lys2761Ile) c.7661A>T (p.Lys2554Ile) c.8381A>T (p.Lys2794Ile) c.8879A>T (p.Lys2960Ile) c.6476A>T (p.Lys2159Ile) | |
2 | g.237336218T>C | CA351191169 | COL6A3 | c.1527A>G c.8264A>G (p.Lys2755Arg) c.1009A>G n.1149A>G c.8882A>G (p.Lys2961Arg) c.7058A>G (p.Lys2353Arg) c.7061A>G (p.Lys2354Arg) n.5324A>G c.8282A>G (p.Lys2761Arg) c.7661A>G (p.Lys2554Arg) c.8381A>G (p.Lys2794Arg) c.8879A>G (p.Lys2960Arg) c.6476A>G (p.Lys2159Arg) | |
2 | g.237336218T>G | CA351191170 | COL6A3 | c.1527A>C c.8264A>C (p.Lys2755Thr) c.1009A>C n.1149A>C c.8882A>C (p.Lys2961Thr) c.7058A>C (p.Lys2353Thr) c.7061A>C (p.Lys2354Thr) n.5324A>C c.8282A>C (p.Lys2761Thr) c.7661A>C (p.Lys2554Thr) c.8381A>C (p.Lys2794Thr) c.8879A>C (p.Lys2960Thr) c.6476A>C (p.Lys2159Thr) | |
2 | g.237336219T>A | CA351191172 | COL6A3 | c.1526A>T c.8263A>T (p.Lys2755Ter) c.1008A>T n.1148A>T c.8881A>T (p.Lys2961Ter) c.7057A>T (p.Lys2353Ter) c.7060A>T (p.Lys2354Ter) n.5323A>T c.8281A>T (p.Lys2761Ter) c.7660A>T (p.Lys2554Ter) c.8380A>T (p.Lys2794Ter) c.8878A>T (p.Lys2960Ter) c.6475A>T (p.Lys2159Ter) | |
2 | g.237336219T>C | CA351191173 | COL6A3 | c.1526A>G c.8263A>G (p.Lys2755Glu) c.1008A>G n.1148A>G c.8881A>G (p.Lys2961Glu) c.7057A>G (p.Lys2353Glu) c.7060A>G (p.Lys2354Glu) n.5323A>G c.8281A>G (p.Lys2761Glu) c.7660A>G (p.Lys2554Glu) c.8380A>G (p.Lys2794Glu) c.8878A>G (p.Lys2960Glu) c.6475A>G (p.Lys2159Glu) | |
2 | g.237336219T>G | CA351191171 | COL6A3 | c.1526A>C c.8263A>C (p.Lys2755Gln) c.1008A>C n.1148A>C c.8881A>C (p.Lys2961Gln) c.7057A>C (p.Lys2353Gln) c.7060A>C (p.Lys2354Gln) n.5323A>C c.8281A>C (p.Lys2761Gln) c.7660A>C (p.Lys2554Gln) c.8380A>C (p.Lys2794Gln) c.8878A>C (p.Lys2960Gln) c.6475A>C (p.Lys2159Gln) | |
2 | g.237336220T>A | CA431700812 | COL6A3 | c.1525A>T c.8262A>T (p.Ala2754=) c.1007A>T n.1147A>T c.8880A>T (p.Ala2960=) c.7056A>T (p.Ala2352=) c.7059A>T (p.Ala2353=) n.5322A>T c.8280A>T (p.Ala2760=) c.7659A>T (p.Ala2553=) c.8379A>T (p.Ala2793=) c.8877A>T (p.Ala2959=) c.6474A>T (p.Ala2158=) | |
2 | g.237336220T>C | CA431700815 | COL6A3 | c.1525A>G c.8262A>G (p.Ala2754=) c.1007A>G n.1147A>G c.8880A>G (p.Ala2960=) c.7056A>G (p.Ala2352=) c.7059A>G (p.Ala2353=) n.5322A>G c.8280A>G (p.Ala2760=) c.7659A>G (p.Ala2553=) c.8379A>G (p.Ala2793=) c.8877A>G (p.Ala2959=) c.6474A>G (p.Ala2158=) | |
2 | g.237336220T>G | CA431700818 | COL6A3 | c.1525A>C c.8262A>C (p.Ala2754=) c.1007A>C n.1147A>C c.8880A>C (p.Ala2960=) c.7056A>C (p.Ala2352=) c.7059A>C (p.Ala2353=) n.5322A>C c.8280A>C (p.Ala2760=) c.7659A>C (p.Ala2553=) c.8379A>C (p.Ala2793=) c.8877A>C (p.Ala2959=) c.6474A>C (p.Ala2158=) | |
2 | g.237336220_237336223delinsTGCA | CA1337607081 | COL6A3 | c.1522_1525delinsTGCA c.8259_8262delinsTGCA (p.Ala2753=) c.1004_1007delinsTGCA n.1144_1147delinsTGCA c.8877_8880delinsTGCA (p.Ala2959=) c.7053_7056delinsTGCA (p.Ala2351=) c.7056_7059delinsTGCA (p.Ala2352=) n.5319_5322delinsTGCA c.8277_8280delinsTGCA (p.Ala2759=) c.7656_7659delinsTGCA (p.Ala2552=) c.8376_8379delinsTGCA (p.Ala2792=) c.8874_8877delinsTGCA (p.Ala2958=) c.6471_6474delinsTGCA (p.Ala2157=) | |
2 | g.237336221G>A | CA351191174 | COL6A3 | c.1524C>T c.8261C>T (p.Ala2754Val) c.1006C>T n.1146C>T c.8879C>T (p.Ala2960Val) c.7055C>T (p.Ala2352Val) c.7058C>T (p.Ala2353Val) n.5321C>T c.8279C>T (p.Ala2760Val) c.7658C>T (p.Ala2553Val) c.8378C>T (p.Ala2793Val) c.8876C>T (p.Ala2959Val) c.6473C>T (p.Ala2158Val) | |
2 | g.237336221G>C | CA2187422 | COL6A3 | c.1524C>G c.8261C>G (p.Ala2754Gly) c.1006C>G n.1146C>G c.8879C>G (p.Ala2960Gly) c.7055C>G (p.Ala2352Gly) c.7058C>G (p.Ala2353Gly) n.5321C>G c.8279C>G (p.Ala2760Gly) c.7658C>G (p.Ala2553Gly) c.8378C>G (p.Ala2793Gly) c.8876C>G (p.Ala2959Gly) c.6473C>G (p.Ala2158Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237336221G= | CA1337607082 | COL6A3 | c.1524C= c.8261C= (p.Ala2754=) c.1006C= n.1146C= c.8879C= (p.Ala2960=) c.7055C= (p.Ala2352=) c.7058C= (p.Ala2353=) n.5321C= c.8279C= (p.Ala2760=) c.7658C= (p.Ala2553=) c.8378C= (p.Ala2793=) c.8876C= (p.Ala2959=) c.6473C= (p.Ala2158=) | |
2 | g.237336221G>T | CA351191175 | COL6A3 | c.1524C>A c.8261C>A (p.Ala2754Glu) c.1006C>A n.1146C>A c.8879C>A (p.Ala2960Glu) c.7055C>A (p.Ala2352Glu) c.7058C>A (p.Ala2353Glu) n.5321C>A c.8279C>A (p.Ala2760Glu) c.7658C>A (p.Ala2553Glu) c.8378C>A (p.Ala2793Glu) c.8876C>A (p.Ala2959Glu) c.6473C>A (p.Ala2158Glu) | gnomAD v4 |
2 | g.237336232_237336234dup | CA2187421 | COL6A3 | c.1522_1524dup c.8259_8261dup (p.Ala2754_Lys2755insAla) c.1004_1006dup n.1144_1146dup c.8877_8879dup (p.Ala2960_Lys2961insAla) c.7053_7055dup (p.Ala2352_Lys2353insAla) c.7056_7058dup (p.Ala2353_Lys2354insAla) n.5319_5321dup c.8277_8279dup (p.Ala2760_Lys2761insAla) c.7656_7658dup (p.Ala2553_Lys2554insAla) c.8376_8378dup (p.Ala2793_Lys2794insAla) c.8874_8876dup (p.Ala2959_Lys2960insAla) c.6471_6473dup (p.Ala2158_Lys2159insAla) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237336229_237336234dup | CA540749773 | COL6A3 | c.1519_1524dup c.8256_8261dup (p.Ala2754_Lys2755insAlaAla) c.1001_1006dup n.1141_1146dup c.8874_8879dup (p.Ala2960_Lys2961insAlaAla) c.7050_7055dup (p.Ala2352_Lys2353insAlaAla) c.7053_7058dup (p.Ala2353_Lys2354insAlaAla) n.5316_5321dup c.8274_8279dup (p.Ala2760_Lys2761insAlaAla) c.7653_7658dup (p.Ala2553_Lys2554insAlaAla) c.8373_8378dup (p.Ala2793_Lys2794insAlaAla) c.8871_8876dup (p.Ala2959_Lys2960insAlaAla) c.6468_6473dup (p.Ala2158_Lys2159insAlaAla) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336232_237336234del | CA148080 | COL6A3 | c.1522_1524del c.8259_8261del (p.Ala2754del) c.1004_1006del n.1144_1146del c.8877_8879del (p.Ala2960del) c.7053_7055del (p.Ala2352del) c.7056_7058del (p.Ala2353del) n.5319_5321del c.8277_8279del (p.Ala2760del) c.7656_7658del (p.Ala2553del) c.8376_8378del (p.Ala2793del) c.8874_8876del (p.Ala2959del) c.6471_6473del (p.Ala2158del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.237336222C>A | CA351191176 | COL6A3 | c.1523G>T c.8260G>T (p.Ala2754Ser) c.1005G>T n.1145G>T c.8878G>T (p.Ala2960Ser) c.7054G>T (p.Ala2352Ser) c.7057G>T (p.Ala2353Ser) n.5320G>T c.8278G>T (p.Ala2760Ser) c.7657G>T (p.Ala2553Ser) c.8377G>T (p.Ala2793Ser) c.8875G>T (p.Ala2959Ser) c.6472G>T (p.Ala2158Ser) | |
2 | g.237336222C>G | CA351191177 | COL6A3 | c.1523G>C c.8260G>C (p.Ala2754Pro) c.1005G>C n.1145G>C c.8878G>C (p.Ala2960Pro) c.7054G>C (p.Ala2352Pro) c.7057G>C (p.Ala2353Pro) n.5320G>C c.8278G>C (p.Ala2760Pro) c.7657G>C (p.Ala2553Pro) c.8377G>C (p.Ala2793Pro) c.8875G>C (p.Ala2959Pro) c.6472G>C (p.Ala2158Pro) | |
2 | g.237336222C>T | CA351191178 | COL6A3 | c.1523G>A c.8260G>A (p.Ala2754Thr) c.1005G>A n.1145G>A c.8878G>A (p.Ala2960Thr) c.7054G>A (p.Ala2352Thr) c.7057G>A (p.Ala2353Thr) n.5320G>A c.8278G>A (p.Ala2760Thr) c.7657G>A (p.Ala2553Thr) c.8377G>A (p.Ala2793Thr) c.8875G>A (p.Ala2959Thr) c.6472G>A (p.Ala2158Thr) | |
2 | g.237336223A>C | CA431700842 | COL6A3 | c.1522T>G c.8259T>G (p.Ala2753=) c.1004T>G n.1144T>G c.8877T>G (p.Ala2959=) c.7053T>G (p.Ala2351=) c.7056T>G (p.Ala2352=) n.5319T>G c.8277T>G (p.Ala2759=) c.7656T>G (p.Ala2552=) c.8376T>G (p.Ala2792=) c.8874T>G (p.Ala2958=) c.6471T>G (p.Ala2157=) | |
2 | g.237336223A>G | CA431700846 | COL6A3 | c.1522T>C c.8259T>C (p.Ala2753=) c.1004T>C n.1144T>C c.8877T>C (p.Ala2959=) c.7053T>C (p.Ala2351=) c.7056T>C (p.Ala2352=) n.5319T>C c.8277T>C (p.Ala2759=) c.7656T>C (p.Ala2552=) c.8376T>C (p.Ala2792=) c.8874T>C (p.Ala2958=) c.6471T>C (p.Ala2157=) | |
2 | g.237336223A>T | CA431700850 | COL6A3 | c.1522T>A c.8259T>A (p.Ala2753=) c.1004T>A n.1144T>A c.8877T>A (p.Ala2959=) c.7053T>A (p.Ala2351=) c.7056T>A (p.Ala2352=) n.5319T>A c.8277T>A (p.Ala2759=) c.7656T>A (p.Ala2552=) c.8376T>A (p.Ala2792=) c.8874T>A (p.Ala2958=) c.6471T>A (p.Ala2157=) | gnomAD v4 |
2 | g.237336224G>A | CA351191179 | COL6A3 | c.1521C>T c.8258C>T (p.Ala2753Val) c.1003C>T n.1143C>T c.8876C>T (p.Ala2959Val) c.7052C>T (p.Ala2351Val) c.7055C>T (p.Ala2352Val) n.5318C>T c.8276C>T (p.Ala2759Val) c.7655C>T (p.Ala2552Val) c.8375C>T (p.Ala2792Val) c.8873C>T (p.Ala2958Val) c.6470C>T (p.Ala2157Val) | COSMIC |
2 | g.237336224G>C | CA351191180 | COL6A3 | c.1521C>G c.8258C>G (p.Ala2753Gly) c.1003C>G n.1143C>G c.8876C>G (p.Ala2959Gly) c.7052C>G (p.Ala2351Gly) c.7055C>G (p.Ala2352Gly) n.5318C>G c.8276C>G (p.Ala2759Gly) c.7655C>G (p.Ala2552Gly) c.8375C>G (p.Ala2792Gly) c.8873C>G (p.Ala2958Gly) c.6470C>G (p.Ala2157Gly) | |
2 | g.237336224G>T | CA351191181 | COL6A3 | c.1521C>A c.8258C>A (p.Ala2753Asp) c.1003C>A n.1143C>A c.8876C>A (p.Ala2959Asp) c.7052C>A (p.Ala2351Asp) c.7055C>A (p.Ala2352Asp) n.5318C>A c.8276C>A (p.Ala2759Asp) c.7655C>A (p.Ala2552Asp) c.8375C>A (p.Ala2792Asp) c.8873C>A (p.Ala2958Asp) c.6470C>A (p.Ala2157Asp) | |
2 | g.237336225C>A | CA2187424 | COL6A3 | c.1520G>T c.8257G>T (p.Ala2753Ser) c.1002G>T n.1142G>T c.8875G>T (p.Ala2959Ser) c.7051G>T (p.Ala2351Ser) c.7054G>T (p.Ala2352Ser) n.5317G>T c.8275G>T (p.Ala2759Ser) c.7654G>T (p.Ala2552Ser) c.8374G>T (p.Ala2792Ser) c.8872G>T (p.Ala2958Ser) c.6469G>T (p.Ala2157Ser) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.237336225C= | CA1337607083 | COL6A3 | c.1520G= c.8257G= (p.Ala2753=) c.1002G= n.1142G= c.8875G= (p.Ala2959=) c.7051G= (p.Ala2351=) c.7054G= (p.Ala2352=) n.5317G= c.8275G= (p.Ala2759=) c.7654G= (p.Ala2552=) c.8374G= (p.Ala2792=) c.8872G= (p.Ala2958=) c.6469G= (p.Ala2157=) | |
2 | g.237336225C>G | CA351191182 | COL6A3 | c.1520G>C c.8257G>C (p.Ala2753Pro) c.1002G>C n.1142G>C c.8875G>C (p.Ala2959Pro) c.7051G>C (p.Ala2351Pro) c.7054G>C (p.Ala2352Pro) n.5317G>C c.8275G>C (p.Ala2759Pro) c.7654G>C (p.Ala2552Pro) c.8374G>C (p.Ala2792Pro) c.8872G>C (p.Ala2958Pro) c.6469G>C (p.Ala2157Pro) | |
2 | g.237336225C>T | CA2187423 | COL6A3 | c.1520G>A c.8257G>A (p.Ala2753Thr) c.1002G>A n.1142G>A c.8875G>A (p.Ala2959Thr) c.7051G>A (p.Ala2351Thr) c.7054G>A (p.Ala2352Thr) n.5317G>A c.8275G>A (p.Ala2759Thr) c.7654G>A (p.Ala2552Thr) c.8374G>A (p.Ala2792Thr) c.8872G>A (p.Ala2958Thr) c.6469G>A (p.Ala2157Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237336226A>C | CA431700887 | COL6A3 | c.1519T>G c.8256T>G (p.Ala2752=) c.1001T>G n.1141T>G c.8874T>G (p.Ala2958=) c.7050T>G (p.Ala2350=) c.7053T>G (p.Ala2351=) n.5316T>G c.8274T>G (p.Ala2758=) c.7653T>G (p.Ala2551=) c.8373T>G (p.Ala2791=) c.8871T>G (p.Ala2957=) c.6468T>G (p.Ala2156=) | |
2 | g.237336226A>G | CA431700893 | COL6A3 | c.1519T>C c.8256T>C (p.Ala2752=) c.1001T>C n.1141T>C c.8874T>C (p.Ala2958=) c.7050T>C (p.Ala2350=) c.7053T>C (p.Ala2351=) n.5316T>C c.8274T>C (p.Ala2758=) c.7653T>C (p.Ala2551=) c.8373T>C (p.Ala2791=) c.8871T>C (p.Ala2957=) c.6468T>C (p.Ala2156=) | gnomAD v4 |
2 | g.237336226A>T | CA431700890 | COL6A3 | c.1519T>A c.8256T>A (p.Ala2752=) c.1001T>A n.1141T>A c.8874T>A (p.Ala2958=) c.7050T>A (p.Ala2350=) c.7053T>A (p.Ala2351=) n.5316T>A c.8274T>A (p.Ala2758=) c.7653T>A (p.Ala2551=) c.8373T>A (p.Ala2791=) c.8871T>A (p.Ala2957=) c.6468T>A (p.Ala2156=) | |
2 | g.237336227G>A | CA351191183 | COL6A3 | c.1518C>T c.8255C>T (p.Ala2752Val) c.1000C>T n.1140C>T c.8873C>T (p.Ala2958Val) c.7049C>T (p.Ala2350Val) c.7052C>T (p.Ala2351Val) n.5315C>T c.8273C>T (p.Ala2758Val) c.7652C>T (p.Ala2551Val) c.8372C>T (p.Ala2791Val) c.8870C>T (p.Ala2957Val) c.6467C>T (p.Ala2156Val) | |
2 | g.237336227G>C | CA351191184 | COL6A3 | c.1518C>G c.8255C>G (p.Ala2752Gly) c.1000C>G n.1140C>G c.8873C>G (p.Ala2958Gly) c.7049C>G (p.Ala2350Gly) c.7052C>G (p.Ala2351Gly) n.5315C>G c.8273C>G (p.Ala2758Gly) c.7652C>G (p.Ala2551Gly) c.8372C>G (p.Ala2791Gly) c.8870C>G (p.Ala2957Gly) c.6467C>G (p.Ala2156Gly) | |
2 | g.237336227G= | CA1337607084 | COL6A3 | c.1518C= c.8255C= (p.Ala2752=) c.1000C= n.1140C= c.8873C= (p.Ala2958=) c.7049C= (p.Ala2350=) c.7052C= (p.Ala2351=) n.5315C= c.8273C= (p.Ala2758=) c.7652C= (p.Ala2551=) c.8372C= (p.Ala2791=) c.8870C= (p.Ala2957=) c.6467C= (p.Ala2156=) | |
2 | g.237336227G>T | CA351191185 | COL6A3 | c.1518C>A c.8255C>A (p.Ala2752Asp) c.1000C>A n.1140C>A c.8873C>A (p.Ala2958Asp) c.7049C>A (p.Ala2350Asp) c.7052C>A (p.Ala2351Asp) n.5315C>A c.8273C>A (p.Ala2758Asp) c.7652C>A (p.Ala2551Asp) c.8372C>A (p.Ala2791Asp) c.8870C>A (p.Ala2957Asp) c.6467C>A (p.Ala2156Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.237336228C>A | CA351191188 | COL6A3 | c.1517G>T c.8254G>T (p.Ala2752Ser) c.999G>T n.1139G>T c.8872G>T (p.Ala2958Ser) c.7048G>T (p.Ala2350Ser) c.7051G>T (p.Ala2351Ser) n.5314G>T c.8272G>T (p.Ala2758Ser) c.7651G>T (p.Ala2551Ser) c.8371G>T (p.Ala2791Ser) c.8869G>T (p.Ala2957Ser) c.6466G>T (p.Ala2156Ser) | |
2 | g.237336228C= | CA1337607085 | COL6A3 | c.1517G= c.8254G= (p.Ala2752=) c.999G= n.1139G= c.8872G= (p.Ala2958=) c.7048G= (p.Ala2350=) c.7051G= (p.Ala2351=) n.5314G= c.8272G= (p.Ala2758=) c.7651G= (p.Ala2551=) c.8371G= (p.Ala2791=) c.8869G= (p.Ala2957=) c.6466G= (p.Ala2156=) | |
2 | g.237336228C>G | CA351191187 | COL6A3 | c.1517G>C c.8254G>C (p.Ala2752Pro) c.999G>C n.1139G>C c.8872G>C (p.Ala2958Pro) c.7048G>C (p.Ala2350Pro) c.7051G>C (p.Ala2351Pro) n.5314G>C c.8272G>C (p.Ala2758Pro) c.7651G>C (p.Ala2551Pro) c.8371G>C (p.Ala2791Pro) c.8869G>C (p.Ala2957Pro) c.6466G>C (p.Ala2156Pro) | |
2 | g.237336228C>T | CA351191186 | COL6A3 | c.1517G>A c.8254G>A (p.Ala2752Thr) c.999G>A n.1139G>A c.8872G>A (p.Ala2958Thr) c.7048G>A (p.Ala2350Thr) c.7051G>A (p.Ala2351Thr) n.5314G>A c.8272G>A (p.Ala2758Thr) c.7651G>A (p.Ala2551Thr) c.8371G>A (p.Ala2791Thr) c.8869G>A (p.Ala2957Thr) c.6466G>A (p.Ala2156Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237336229A= | CA1337607086 | COL6A3 | c.1516T= c.8253T= (p.Ala2751=) c.998T= n.1138T= c.8871T= (p.Ala2957=) c.7047T= (p.Ala2349=) c.7050T= (p.Ala2350=) n.5313T= c.8271T= (p.Ala2757=) c.7650T= (p.Ala2550=) c.8370T= (p.Ala2790=) c.8868T= (p.Ala2956=) c.6465T= (p.Ala2155=) | |
2 | g.237336229A>C | CA431700924 | COL6A3 | c.1516T>G c.8253T>G (p.Ala2751=) c.998T>G n.1138T>G c.8871T>G (p.Ala2957=) c.7047T>G (p.Ala2349=) c.7050T>G (p.Ala2350=) n.5313T>G c.8271T>G (p.Ala2757=) c.7650T>G (p.Ala2550=) c.8370T>G (p.Ala2790=) c.8868T>G (p.Ala2956=) c.6465T>G (p.Ala2155=) | |
2 | g.237336229A>G | CA431700917 | COL6A3 | c.1516T>C c.8253T>C (p.Ala2751=) c.998T>C n.1138T>C c.8871T>C (p.Ala2957=) c.7047T>C (p.Ala2349=) c.7050T>C (p.Ala2350=) n.5313T>C c.8271T>C (p.Ala2757=) c.7650T>C (p.Ala2550=) c.8370T>C (p.Ala2790=) c.8868T>C (p.Ala2956=) c.6465T>C (p.Ala2155=) | dbSNP |
2 | g.237336229A>T | CA431700921 | COL6A3 | c.1516T>A c.8253T>A (p.Ala2751=) c.998T>A n.1138T>A c.8871T>A (p.Ala2957=) c.7047T>A (p.Ala2349=) c.7050T>A (p.Ala2350=) n.5313T>A c.8271T>A (p.Ala2757=) c.7650T>A (p.Ala2550=) c.8370T>A (p.Ala2790=) c.8868T>A (p.Ala2956=) c.6465T>A (p.Ala2155=) |